3-197260328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260328
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260328
    reference: chr 3
allele count: 2
allele frequency: 1.649702228747711e-5
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+28T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+32T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+32T>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10724
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-197260331-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260331
    reference: chr 3
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+25C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+29C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+29C>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

3-197260337-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260337
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260337
    reference: chr 3
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+19G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+23G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+23G>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

3-197260337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260337
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260337
    reference: chr 3
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+19G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+23G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+23G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-197260338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260338
    reference: chr 3
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+18C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+22C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+22C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-197260340-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260340
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260340
    reference: chr 3
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+16C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+20C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+20C>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-197260345-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260345
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260345
    reference: chr 3
allele count: 5
allele frequency: 4.120652711389484e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+11A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+15A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+15A>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26617
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-197260353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260353
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260353
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+3G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+7G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+7G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: c.156+7G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-197260355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260355
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260355
    reference: chr 3
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-98+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+5G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+5G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: c.-98+1G>A
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-197260358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260358
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260358
    reference: chr 3
allele count: 8
allele frequency: 6.59108884787767e-5
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-100T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+2T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+2T>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: c.156+2T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-197260359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260359
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260359
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156+1G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-101G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156+1G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: c.156+1G>A
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-197260360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260360
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260360
    reference: chr 3
allele count: 6
allele frequency: 4.942990838990312e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-102G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-106G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.99G>A
  hgvsp: ENST00000434143.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.156G>A
  hgvsp: ENST00000431056.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.156G>A
  hgvsp: ENST00000392379.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.668G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.156G>A
  hgvsp: ENST00000392378.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.152G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.156G>A
  hgvsp: ENST00000358186.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.156G>A
  hgvsp: ENST00000432819.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.156G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff

3-197260361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260361
    reference: chr 3
allele count: 7
allele frequency: 5.766632616074076e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.155C>T
  hgvsp: ENSP00000409849.1:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.667C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-107C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.98C>T
  hgvsp: ENSP00000408685.1:p.Pro33Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-103C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.155C>T
  hgvsp: ENSP00000376183.2:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.155C>T
  hgvsp: ENSP00000396149.1:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.151C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.155C>T
  hgvsp: ENSP00000376184.1:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.155C>T
  hgvsp: ENSP00000350914.2:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro52Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

3-197260366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260366
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-108G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.150G>A
  hgvsp: ENST00000432819.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.150G>A
  hgvsp: ENST00000392378.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.150G>A
  hgvsp: ENST00000392379.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.93G>A
  hgvsp: ENST00000434143.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.662G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.150G>A
  hgvsp: ENST00000358186.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.150G>A
  hgvsp: ENST00000445160.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.146G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.150G>A
  hgvsp: ENST00000431056.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala50Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-197260367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260367
    reference: chr 3
allele count: 15
allele frequency: 1.235645913307083e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.92C>T
  hgvsp: ENSP00000408685.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.661C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.149C>T
  hgvsp: ENSP00000405462.2:p.Ala50Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.149C>T
  hgvsp: ENSP00000376183.2:p.Ala50Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.149C>T
  hgvsp: ENSP00000350914.2:p.Ala50Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-113C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-109C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.149C>T
  hgvsp: ENSP00000409849.1:p.Ala50Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.149C>T
  hgvsp: ENSP00000376184.1:p.Ala50Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.149C>T
  hgvsp: ENSP00000396149.1:p.Ala50Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.145C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala50Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-197260369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260369
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260369
    reference: chr 3
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.90G>A
  hgvsp: ENST00000434143.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.147G>A
  hgvsp: ENST00000432819.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.147G>A
  hgvsp: ENST00000392379.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.147G>A
  hgvsp: ENST00000358186.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.147G>A
  hgvsp: ENST00000445160.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.147G>A
  hgvsp: ENST00000431056.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.147G>A
  hgvsp: ENST00000392378.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.143G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.659G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala49Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-197260370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260370
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260370
    reference: chr 3
allele count: 9
allele frequency: 7.413631196560076e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.146C>T
  hgvsp: ENSP00000405462.2:p.Ala49Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.146C>T
  hgvsp: ENSP00000376183.2:p.Ala49Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.146C>T
  hgvsp: ENSP00000350914.2:p.Ala49Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.146C>T
  hgvsp: ENSP00000396149.1:p.Ala49Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.146C>T
  hgvsp: ENSP00000376184.1:p.Ala49Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.142C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.89C>T
  hgvsp: ENSP00000408685.1:p.Ala30Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.146C>T
  hgvsp: ENSP00000409849.1:p.Ala49Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-112C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.658C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-116C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala49Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

3-197260374-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260374
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260374
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.85A>G
  hgvsp: ENSP00000408685.1:p.Ser29Gly
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-116A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-120A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.142A>G
  hgvsp: ENSP00000376184.1:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.142A>G
  hgvsp: ENSP00000409849.1:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.142A>G
  hgvsp: ENSP00000396149.1:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.142A>G
  hgvsp: ENSP00000376183.2:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.654A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.142A>G
  hgvsp: ENSP00000405462.2:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.138A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.142A>G
  hgvsp: ENSP00000350914.2:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser48Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-197260378-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260378
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.138T>C
  hgvsp: ENST00000431056.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-120T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.138T>C
  hgvsp: ENST00000358186.2:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.138T>C
  hgvsp: ENST00000445160.2:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.81T>C
  hgvsp: ENST00000434143.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.138T>C
  hgvsp: ENST00000392378.2:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.138T>C
  hgvsp: ENST00000392379.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.138T>C
  hgvsp: ENST00000432819.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.650T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.134T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-124T>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr46Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-197260385-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260385
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260385
    reference: chr 3
allele count: 33
allele frequency: 2.71828665568369e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.643G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.131G>T
  hgvsp: ENSP00000409849.1:p.Arg44Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.131G>T
  hgvsp: ENSP00000376183.2:p.Arg44Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-127G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.131G>T
  hgvsp: ENSP00000405462.2:p.Arg44Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.74G>T
  hgvsp: ENSP00000408685.1:p.Arg25Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.131G>T
  hgvsp: ENSP00000396149.1:p.Arg44Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.131G>T
  hgvsp: ENSP00000376184.1:p.Arg44Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-131G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.127G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.131G>T
  hgvsp: ENSP00000350914.2:p.Arg44Leu
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Arg44Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

3-197260385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260385
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260385
    reference: chr 3
allele count: 354
allele frequency: 2.915980230642504e-3
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.131G>A
  hgvsp: ENSP00000376184.1:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.74G>A
  hgvsp: ENSP00000408685.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.131G>A
  hgvsp: ENSP00000350914.2:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-131G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.131G>A
  hgvsp: ENSP00000409849.1:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.127G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.131G>A
  hgvsp: ENSP00000376183.2:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.131G>A
  hgvsp: ENSP00000396149.1:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.131G>A
  hgvsp: ENSP00000405462.2:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.643G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-127G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 17556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22322
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Arg44Gln
num of homozygotes: 3
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-197260386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260386
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.130C>T
  hgvsp: ENSP00000376183.2:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.130C>T
  hgvsp: ENSP00000409849.1:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.130C>T
  hgvsp: ENSP00000376184.1:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.73C>T
  hgvsp: ENSP00000408685.1:p.Arg25Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-128C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.126C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.130C>T
  hgvsp: ENSP00000350914.2:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.130C>T
  hgvsp: ENSP00000396149.1:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.642C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-132C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.130C>T
  hgvsp: ENSP00000405462.2:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg44Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-197260388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260388
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260388
    reference: chr 3
allele count: 14
allele frequency: 1.153269519086611e-4
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.128G>A
  hgvsp: ENSP00000376184.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.128G>A
  hgvsp: ENSP00000405462.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.71G>A
  hgvsp: ENSP00000408685.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-134G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.128G>A
  hgvsp: ENSP00000376183.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.128G>A
  hgvsp: ENSP00000350914.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.128G>A
  hgvsp: ENSP00000396149.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.128G>A
  hgvsp: ENSP00000409849.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.124G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.640G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg43His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

3-197260389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260389
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260389
    reference: chr 3
allele count: 69
allele frequency: 5.683783917362725e-4
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.127C>T
  hgvsp: ENSP00000376183.2:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.127C>T
  hgvsp: ENSP00000350914.2:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-131C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.127C>T
  hgvsp: ENSP00000396149.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.127C>T
  hgvsp: ENSP00000405462.2:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.70C>T
  hgvsp: ENSP00000408685.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.127C>T
  hgvsp: ENSP00000409849.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-135C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.123C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.639C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.127C>T
  hgvsp: ENSP00000376184.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22456
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg43Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-197260392-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260392
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260391
    reference: chr 3
allele count: 8
allele frequency: 6.590111537637774e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.123delT
  hgvsp: ENSP00000376184.1:p.Ile41MetfsTer47
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.123delT
  hgvsp: ENSP00000396149.1:p.Ile41MetfsTer47
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.123delT
  hgvsp: ENSP00000350914.2:p.Ile41MetfsTer47
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.123delT
  hgvsp: ENSP00000409849.1:p.Ile41MetfsTer47
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.66delT
  hgvsp: ENSP00000408685.1:p.Ile22MetfsTer47
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.119delT
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.123delT
  hgvsp: ENSP00000376183.2:p.Ile41MetfsTer47
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-139delT
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.635delT
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-135delT
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.123delT
  hgvsp: ENSP00000405462.2:p.Ile41MetfsTer?
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile41MetfsTer47
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: CA
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-197260396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260396
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260396
    reference: chr 3
allele count: 6
allele frequency: 4.94266508501384e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.120G>A
  hgvsp: ENST00000392378.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-142G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.120G>A
  hgvsp: ENST00000358186.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.63G>A
  hgvsp: ENST00000434143.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.120G>A
  hgvsp: ENST00000432819.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.120G>A
  hgvsp: ENST00000445160.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.120G>A
  hgvsp: ENST00000392379.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.120G>A
  hgvsp: ENST00000431056.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.632G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.116G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro40Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-197260399-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260399
    reference: chr 3
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.60C>G
  hgvsp: ENSP00000408685.1:p.Ile20Met
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.629C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.117C>G
  hgvsp: ENSP00000396149.1:p.Ile39Met
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.117C>G
  hgvsp: ENSP00000376184.1:p.Ile39Met
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.113C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.117C>G
  hgvsp: ENSP00000376183.2:p.Ile39Met
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-141C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.117C>G
  hgvsp: ENSP00000405462.2:p.Ile39Met
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.117C>G
  hgvsp: ENSP00000350914.2:p.Ile39Met
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.117C>G
  hgvsp: ENSP00000409849.1:p.Ile39Met
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-145C>G
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

3-197260409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260409
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.107C>T
  hgvsp: ENSP00000376184.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.107C>T
  hgvsp: ENSP00000405462.2:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.107C>T
  hgvsp: ENSP00000376183.2:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.107C>T
  hgvsp: ENSP00000409849.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.619C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.50C>T
  hgvsp: ENSP00000408685.1:p.Thr17Ile
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.107C>T
  hgvsp: ENSP00000350914.2:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-151C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.107C>T
  hgvsp: ENSP00000396149.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.103C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr36Ile
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-197260420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260420
    reference: chr 3
allele count: 3
allele frequency: 2.472758444470088e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.96G>A
  hgvsp: ENST00000392378.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.39G>A
  hgvsp: ENST00000434143.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.96G>A
  hgvsp: ENST00000431056.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-166G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.92G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-162G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.96G>A
  hgvsp: ENST00000358186.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.96G>A
  hgvsp: ENST00000392379.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.96G>A
  hgvsp: ENST00000432819.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.96G>A
  hgvsp: ENST00000445160.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.608G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu32Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-197260426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260426
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260426
    reference: chr 3
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.90A>G
  hgvsp: ENST00000432819.1:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.33A>G
  hgvsp: ENST00000434143.1:c.33A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.602A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.90A>G
  hgvsp: ENST00000392378.2:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.90A>G
  hgvsp: ENST00000431056.1:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.90A>G
  hgvsp: ENST00000358186.2:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.90A>G
  hgvsp: ENST00000392379.1:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.90A>G
  hgvsp: ENST00000445160.2:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.86A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-172A>G
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro30Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-197260427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260427
    reference: chr 3
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.85C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-169C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.32C>T
  hgvsp: ENSP00000408685.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.89C>T
  hgvsp: ENSP00000409849.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.89C>T
  hgvsp: ENSP00000376184.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.89C>T
  hgvsp: ENSP00000396149.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.89C>T
  hgvsp: ENSP00000405462.2:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.601C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.89C>T
  hgvsp: ENSP00000350914.2:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.89C>T
  hgvsp: ENSP00000376183.2:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-173C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro30Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-197260430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260430
    reference: chr 3
allele count: 5
allele frequency: 4.123983438082513e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.82G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.598G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.29G>A
  hgvsp: ENSP00000408685.1:p.Arg10His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-172G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.86G>A
  hgvsp: ENSP00000405462.2:p.Arg29His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-176G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.86G>A
  hgvsp: ENSP00000376183.2:p.Arg29His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.86G>A
  hgvsp: ENSP00000396149.1:p.Arg29His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.86G>A
  hgvsp: ENSP00000409849.1:p.Arg29His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.86G>A
  hgvsp: ENSP00000376184.1:p.Arg29His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.86G>A
  hgvsp: ENSP00000350914.2:p.Arg29His
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg29His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

3-197260431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260431
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260431
    reference: chr 3
allele count: 13
allele frequency: 1.072501072501073e-4
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.85C>T
  hgvsp: ENSP00000376184.1:p.Arg29Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.85C>T
  hgvsp: ENSP00000405462.2:p.Arg29Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.28C>T
  hgvsp: ENSP00000408685.1:p.Arg10Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.85C>T
  hgvsp: ENSP00000409849.1:p.Arg29Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-177C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.597C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.85C>T
  hgvsp: ENSP00000396149.1:p.Arg29Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-173C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.85C>T
  hgvsp: ENSP00000350914.2:p.Arg29Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.85C>T
  hgvsp: ENSP00000376183.2:p.Arg29Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.81C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg29Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

3-197260438-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260438
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260438
    reference: chr 3
allele count: 3
allele frequency: 2.477659767760691e-5
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.590T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.27-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-6T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.74T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-6T>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.84-6T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-197260439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260439
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260439
    reference: chr 3
allele count: 6
allele frequency: 4.95523768623435e-5
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.27-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.589C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-7C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.73C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-7C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17424
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.84-7C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-197260452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260452
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260452
    reference: chr 3
allele count: 2
allele frequency: 1.658704883227176e-5
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.60G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.576G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.27-20G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-20G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-197260453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260453
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260453
    reference: chr 3
allele count: 13
allele frequency: 1.078694945069534e-4
allele num: 120516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.27-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.575C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.59C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-21C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-21C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

3-197260453-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260453
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260454
    reference: chr 3
allele count: 4
allele frequency: 3.319061369444721e-5
allele num: 120516
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.574dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.27-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-22dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.58dupA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-22dupA
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-197260473-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197260473
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197260473
    reference: chr 3
allele count: 1
allele frequency: 8.359806052499582e-6
allele num: 119620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.27-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000495285
  gene symbol: BDH1
  hgvsc: ENST00000495285.1:n.555C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000477015
  gene symbol: BDH1
  hgvsc: ENST00000477015.1:n.39C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-41C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-41C>G
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

3-197265152-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265152
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265152
    reference: chr 3
allele count: 2
allele frequency: 1.380262249827467e-4
allele num: 14490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4720C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4720C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4720C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4720C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4720C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4720C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4720C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.26+25C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4720C>G
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-197265161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265161
    reference: chr 3
allele count: 27
allele frequency: 1.865156120475269e-3
allele num: 14476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4729A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.26+16A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4729A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4729A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4729A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4729A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4729A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4729A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4729A>G
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 9.75e1
  variant carriers: 24
num of homozygotes: 1
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

3-197265184-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265184
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265184
    reference: chr 3
allele count: 1
allele frequency: 6.978367062107467e-5
allele num: 14330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4752C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.19C>G
  hgvsp: ENSP00000408685.1:p.Gln7Glu
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln7Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

3-197265186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265186
    reference: chr 3
allele count: 2
allele frequency: 1.398014818957081e-4
allele num: 14306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4754T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4754T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4754T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4754T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4754T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4754T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4754T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.17T>C
  hgvsp: ENSP00000408685.1:p.Ile6Thr
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4754T>C
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile6Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

3-197265197-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265197
    reference: chr 3
allele count: 17
allele frequency: 1.205160924429321e-3
allele num: 14106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.6G>A
  hgvsp: ENST00000434143.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4765G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4765G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4765G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4765G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4765G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4765G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4765G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4765G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

3-197265198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265198
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265198
    reference: chr 3
allele count: 2
allele frequency: 1.419849495953429e-4
allele num: 14086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4766C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4766C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4766C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4766C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.5C>T
  hgvsp: ENSP00000408685.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4766C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4766C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4766C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4766C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala2Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

3-197265214-T-TTTTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265219
    reference: chr 3
allele count: 3
allele frequency: 2.178016552925802e-4
allele num: 13774
alternate allele: TTTTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4787_84-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4787_-178-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4787_84-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.-17_-13dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4787_84-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4787_-174-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4787_84-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4787_84-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4787_84-4783dupCAAAA
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-197265228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197265228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197265228
    reference: chr 3
allele count: 2
allele frequency: 1.498576352465158e-4
allele num: 13346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000408685
  ensembl transcript: ENST00000434143
  gene symbol: BDH1
  hgvsc: ENST00000434143.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.84-4796A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-174-4796A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.84-4796A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.84-4796A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.84-4796A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.84-4796A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-178-4796A>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.84-4796A>G
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-197273186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273186
    reference: chr 3
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.348G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+46G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+46G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+46G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+46G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8247G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+46G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9466G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+46G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+46G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24255
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-197273189-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273189
    reference: chr 3
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+43T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+43T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+43T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9463T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8244T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+43T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+43T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+43T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.345T>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+43T>G
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-197273194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273194
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273194
    reference: chr 3
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+38C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+38C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+38C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+38C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+38C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9458C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8239C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.340C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+38C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+38C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-197273199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273199
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273199
    reference: chr 3
allele count: 97
allele frequency: 8.003432399874585e-4
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+33G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+33G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.335G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9453G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+33G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+33G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+33G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+33G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8234G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+33G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-197273207-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273207
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273206
    reference: chr 3
allele count: 16
allele frequency: 1.31945704342663e-4
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.326delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+24delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+24delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+24delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+24delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9444delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+24delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+24delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8225delG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+24delG
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11151
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: GC
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-197273207-GCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273207
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273204
    reference: chr 3
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+22_323+24delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+22_83+24delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.324_326delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8223_-175+8225delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+22_83+24delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+22_83+24delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+22_83+24delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+22_83+24delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+22_83+24delTGG
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9442_-179+9444delTGG
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: GCCA
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/3-197273214-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273214
    reference: chr 3
allele count: 4
allele frequency: 3.297446127973885e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+18G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+18G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.320G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+18G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9438G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+18G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+18G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+18G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+18G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8219G>T
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-197273215-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273215
    reference: chr 3
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+17G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9437G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+17G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+17G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8218G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+17G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+17G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+17G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.319G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+17G>C
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-197273215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273215
    reference: chr 3
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.319G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+17G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8218G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+17G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+17G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+17G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+17G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+17G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9437G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+17G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/3-197273231-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273231
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9421G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.323+1G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.83+1G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8202G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.83+1G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.303G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.83+1G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.83+1G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.83+1G>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.83+1G>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.83+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-197273235-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273235
    reference: chr 3
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.299C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8198C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.80C>A
  hgvsp: ENSP00000405462.2:p.Ala27Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.80C>A
  hgvsp: ENSP00000376183.2:p.Ala27Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9417C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.320C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.80C>A
  hgvsp: ENSP00000350914.2:p.Ala27Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.80C>A
  hgvsp: ENSP00000376184.1:p.Ala27Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.80C>A
  hgvsp: ENSP00000409849.1:p.Ala27Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.80C>A
  hgvsp: ENSP00000396149.1:p.Ala27Glu
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala27Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-197273238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273238
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273238
    reference: chr 3
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8195G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.77G>A
  hgvsp: ENSP00000405462.2:p.Gly26Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.317G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.77G>A
  hgvsp: ENSP00000396149.1:p.Gly26Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.77G>A
  hgvsp: ENSP00000376184.1:p.Gly26Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.77G>A
  hgvsp: ENSP00000376183.2:p.Gly26Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.77G>A
  hgvsp: ENSP00000409849.1:p.Gly26Glu
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.296G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9414G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.77G>A
  hgvsp: ENSP00000350914.2:p.Gly26Glu
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly26Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

3-197273250-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273250
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273250
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9402A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.65A>C
  hgvsp: ENSP00000376184.1:p.Asp22Ala
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.305A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.284A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.65A>C
  hgvsp: ENSP00000350914.2:p.Asp22Ala
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8183A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.65A>C
  hgvsp: ENSP00000405462.2:p.Asp22Ala
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.65A>C
  hgvsp: ENSP00000376183.2:p.Asp22Ala
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.65A>C
  hgvsp: ENSP00000409849.1:p.Asp22Ala
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.65A>C
  hgvsp: ENSP00000396149.1:p.Asp22Ala
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24221
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp22Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-197273278-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273278
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273278
    reference: chr 3
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.37C>G
  hgvsp: ENSP00000405462.2:p.Leu13Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.37C>G
  hgvsp: ENSP00000376183.2:p.Leu13Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.37C>G
  hgvsp: ENSP00000376184.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.37C>G
  hgvsp: ENSP00000350914.2:p.Leu13Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.256C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.277C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9374C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.37C>G
  hgvsp: ENSP00000396149.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8155C>G
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.37C>G
  hgvsp: ENSP00000409849.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu13Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-197273280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273280
    reference: chr 3
allele count: 31
allele frequency: 2.553457876182004e-4
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8153G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.35G>A
  hgvsp: ENSP00000405462.2:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.35G>A
  hgvsp: ENSP00000396149.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.254G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.275G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.35G>A
  hgvsp: ENSP00000376184.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.35G>A
  hgvsp: ENSP00000409849.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.35G>A
  hgvsp: ENSP00000350914.2:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9372G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.35G>A
  hgvsp: ENSP00000376183.2:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg12Gln
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

3-197273281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273281
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273281
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.253C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.274C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.34C>T
  hgvsp: ENSP00000376184.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.34C>T
  hgvsp: ENSP00000405462.2:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.34C>T
  hgvsp: ENSP00000350914.2:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.34C>T
  hgvsp: ENSP00000396149.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.34C>T
  hgvsp: ENSP00000376183.2:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9371C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8152C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.34C>T
  hgvsp: ENSP00000409849.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg12Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

3-197273281-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273281
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273281
    reference: chr 3
allele count: 6
allele frequency: 4.942257952916756e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.34C>A
  hgvsp: ENST00000358186.2:c.34C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.34C>A
  hgvsp: ENST00000431056.1:c.34C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.34C>A
  hgvsp: ENST00000432819.1:c.34C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.34C>A
  hgvsp: ENST00000392379.1:c.34C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.34C>A
  hgvsp: ENST00000445160.2:c.34C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.34C>A
  hgvsp: ENST00000392378.2:c.34C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.274C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.253C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9371C>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8152C>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg12Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-197273286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273286
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.29T>C
  hgvsp: ENSP00000350914.2:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.29T>C
  hgvsp: ENSP00000376184.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8147T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9366T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.29T>C
  hgvsp: ENSP00000409849.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.29T>C
  hgvsp: ENSP00000405462.2:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.269T>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.29T>C
  hgvsp: ENSP00000376183.2:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.29T>C
  hgvsp: ENSP00000396149.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.248T>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu10Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

3-197273301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273301
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273301
    reference: chr 3
allele count: 3
allele frequency: 2.473288484368817e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8132G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.14G>A
  hgvsp: ENSP00000396149.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.14G>A
  hgvsp: ENSP00000405462.2:p.Arg5His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.14G>A
  hgvsp: ENSP00000376184.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.14G>A
  hgvsp: ENSP00000350914.2:p.Arg5His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.14G>A
  hgvsp: ENSP00000409849.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.233G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.254G>A
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.14G>A
  hgvsp: ENSP00000376183.2:p.Arg5His
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9351G>A
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg5His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-197273302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273302
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273302
    reference: chr 3
allele count: 4
allele frequency: 3.297826732183491e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.13C>T
  hgvsp: ENSP00000376184.1:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.13C>T
  hgvsp: ENSP00000350914.2:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8131C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.13C>T
  hgvsp: ENSP00000376183.2:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.13C>T
  hgvsp: ENSP00000405462.2:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.13C>T
  hgvsp: ENSP00000409849.1:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.13C>T
  hgvsp: ENSP00000396149.1:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9350C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.253C>T
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.232C>T
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg5Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-197273305-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273305
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273305
    reference: chr 3
allele count: 5
allele frequency: 4.142433431094762e-5
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.10A>C
  hgvsp: ENSP00000405462.2:p.Thr4Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9347A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.10A>C
  hgvsp: ENSP00000376183.2:p.Thr4Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.10A>C
  hgvsp: ENSP00000396149.1:p.Thr4Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.10A>C
  hgvsp: ENSP00000409849.1:p.Thr4Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.10A>C
  hgvsp: ENSP00000376184.1:p.Thr4Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.250A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.10A>C
  hgvsp: ENSP00000350914.2:p.Thr4Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.229A>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8128A>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11191
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr4Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

3-197273308-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197273308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 197273308
    reference: chr 3
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000405462
  ensembl transcript: ENST00000445160
  gene symbol: BDH1
  hgvsc: ENST00000445160.2:c.7G>C
  hgvsp: ENSP00000405462.2:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000492681
  gene symbol: BDH1
  hgvsc: ENST00000492681.1:n.226G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000396149
  ensembl transcript: ENST00000431056
  gene symbol: BDH1
  hgvsc: ENST00000431056.1:c.7G>C
  hgvsp: ENSP00000396149.1:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161267
  ensembl transcript: ENST00000468710
  gene symbol: BDH1
  hgvsc: ENST00000468710.1:n.247G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000387648
  ensembl transcript: ENST00000446746
  gene symbol: BDH1
  hgvsc: ENST00000446746.1:c.-179+9344G>C
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376183
  ensembl transcript: ENST00000392378
  gene symbol: BDH1
  hgvsc: ENST00000392378.2:c.7G>C
  hgvsp: ENSP00000376183.2:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000376184
  ensembl transcript: ENST00000392379
  gene symbol: BDH1
  hgvsc: ENST00000392379.1:c.7G>C
  hgvsp: ENSP00000376184.1:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000350914
  ensembl transcript: ENST00000358186
  gene symbol: BDH1
  hgvsc: ENST00000358186.2:c.7G>C
  hgvsp: ENSP00000350914.2:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000409849
  ensembl transcript: ENST00000432819
  gene symbol: BDH1
  hgvsc: ENST00000432819.1:c.7G>C
  hgvsp: ENSP00000409849.1:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/1027
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161267
  ensembl protein: ENSP00000411014
  ensembl transcript: ENST00000441275
  gene symbol: BDH1
  hgvsc: ENST00000441275.1:c.-175+8125G>C
  variant of: http://identifiers.org/hgnc/1027
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala3Pro
num of homozygotes: 0
reference allele: C

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

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

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7212
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 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: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

DP
type: SiteQuality
SIO_000300: 1.945943e6

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 1.229e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

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

GenotypeQuality
all individuals: 1523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3498
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 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: 1.500105007350515e-5
allele num: 66662
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

QD
type: SiteQuality
SIO_000300: 9.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.795e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.946817e6

MQ
type: SiteQuality
SIO_000300: 5.897e1

VQSLOD
type: SiteQuality
SIO_000300: -1.231e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

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

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7209
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3815
bin: 7.25e1
variant carriers: 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: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.96e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.161e0

FS
type: SiteQuality
SIO_000300: 9.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.948488e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7209
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.161e0

VQSLOD
type: SiteQuality
SIO_000300: -6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 9.128e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

DP
type: SiteQuality
SIO_000300: 1.948488e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

GenotypeQuality
all individuals: 26507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10781
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
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: 1.266e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.949303e6

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.012e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

GenotypeQuality
all individuals: 3504
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

DP
type: SiteQuality
SIO_000300: 1.94967e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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

East Asian
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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: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 5.261e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

DP
type: SiteQuality
SIO_000300: 1.950593e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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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: 16500
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

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: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.248e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.766e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.629e0

DP
type: SiteQuality
SIO_000300: 1.951413e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.317e1

VQSLOD
type: SiteQuality
SIO_000300: -1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.951553e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
all individuals: 15
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variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.767012687427913e-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: 66712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

DP
type: SiteQuality
SIO_000300: 1.951782e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.92e-2

FS
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 4.68e-1

DP
type: SiteQuality
SIO_000300: 1.951741e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

MQ
type: SiteQuality
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4826
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.951979e6

VQSLOD
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SIO_000300: 6.16e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: -1.004e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
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SIO_000300: 9.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

Other
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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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
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DP
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ReadPosRankSum
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SIO_000300: 1.29e0

ClippingRankSum
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SIO_000300: -4.4e-2

InbreedingCoeff
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SIO_000300: 3.0e-4

MQRankSum
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SIO_000300: -3.0e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.94838284224094e-4
allele num: 66722
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

ReadPosRankSum
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SIO_000300: 9.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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DP
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SIO_000300: 1.952276e6

QD
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SIO_000300: 1.26e1

MQRankSum
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SIO_000300: -4.0e-3

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 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: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 9.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

DP
type: SiteQuality
SIO_000300: 1.951352e6

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7167
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variant carriers: 9

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.951418e6

BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

East Asian
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allele num: 8654
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FS
type: SiteQuality
SIO_000300: 7.99e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 32
allele frequency: 1.937984496124031e-3
allele num: 16512
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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Latino
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 351

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele count: 319
allele frequency: 3.06553911205074e-2
allele num: 10406
num of homozygotes: 3

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

Latino
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allele count: 14
allele frequency: 1.20918984280532e-3
allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 18
allele frequency: 2.697437434437285e-4
allele num: 66730
num of homozygotes: 0

VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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FS
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BaseQRankSum
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SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 1.095e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
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SIO_000300: 5.0e-4

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
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SIO_000300: 1.944792e6

GenotypeQuality
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variant carriers: 0

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

Latino
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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

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

African
type: Population
allele count: 13
allele frequency: 1.249519415609381e-3
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQ
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DP
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VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.81e0

ClippingRankSum
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SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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QD
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SIO_000300: 1.241e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 69

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

South Asian
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: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 68
allele frequency: 6.535947712418301e-3
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 3.56e0

MQRankSum
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FS
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SIO_000300: 1.727e0

ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.956e1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-4

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 8
allele frequency: 9.244280101687081e-4
allele num: 8654
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 3.028100775193798e-4
allele num: 16512
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ReadPosRankSum
type: SiteQuality
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

Other
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Latino
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South Asian
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

East Asian
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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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.98e1

MQRankSum
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SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

BaseQRankSum
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SIO_000300: -2.527e0

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 1.063e0

QD
type: SiteQuality
SIO_000300: 1.123e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 1.943309e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3507
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

South Asian
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: 902
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

DP
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SIO_000300: 1.942391e6

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -4.197e0

QD
type: SiteQuality
SIO_000300: 9.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 1.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

East Asian
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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: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.941237e6

FS
type: SiteQuality
SIO_000300: 2.343e0

BaseQRankSum
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SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.48e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
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SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

DP
type: SiteQuality
SIO_000300: 1.940938e6

GenotypeDepth
all individuals: 854
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
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variant carriers: 1

GenotypeDepth
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 181
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6939
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3500
bin: 8.25e1
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.002400960384154e-5
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.939575e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
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SIO_000300: 1.45e0

MQRankSum
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SIO_000300: 1.85e-1

BaseQRankSum
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MQ
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SIO_000300: 5.929e1

ReadPosRankSum
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SIO_000300: -4.71e-1

FS
type: SiteQuality
SIO_000300: 2.726e0

QD
type: SiteQuality
SIO_000300: 1.343e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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bin: 8.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 13

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 13
allele frequency: 1.951365956169319e-4
allele num: 66620
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.938444e6

MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
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GenotypeDepth
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variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 902
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.508837321149453e-5
allele num: 66536
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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SIO_000300: 2.48e-1

DP
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SIO_000300: 1.930733e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2149
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.011602392617753e-5
allele num: 66538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
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Latino
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allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
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BaseQRankSum
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SIO_000300: -2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

MQ
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SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 1.930603e6

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

QD
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SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 5.174e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.889193e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.469812630117973e-4
allele num: 11528
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.556066009792661e-5
allele num: 66172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 4.0e-4

BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 1.879871e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022426403917065e-5
allele num: 66172
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.879871e6

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

QD
type: SiteQuality
SIO_000300: 1.352e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.621e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522811719558994e-5
allele num: 65668
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.293e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.721814e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.629503023928478e-4
allele num: 7606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.83e1

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -1.787e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.362e1

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

African
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allele frequency: 4.040404040404041e-2
allele num: 594
num of homozygotes: 1

South Asian
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allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 7.267441860465116e-4
allele num: 4128
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 198
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Other
type: Population
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allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

ClippingRankSum
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SIO_000300: 0.0e0

FS
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QD
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SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.2328e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 192
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4052
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European (Finnish)
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allele num: 1574
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South Asian
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allele num: 7600
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.947e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
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SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.655e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.841e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 170
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 3.571428571428571e-3
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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SIO_000300: -2.05e-1

DP
type: SiteQuality
SIO_000300: 3.19356e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 7.86e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.544529262086514e-4
allele num: 3930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.974723538704581e-3
allele num: 7596
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 6.097560975609756e-3
allele num: 164
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.003e0

QD
type: SiteQuality
SIO_000300: 9.5e0

DP
type: SiteQuality
SIO_000300: 3.16642e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.828e1

FS
type: SiteQuality
SIO_000300: 2.577e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.633658151171978e-4
allele num: 7594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

QD
type: SiteQuality
SIO_000300: 8.25e0

FS
type: SiteQuality
SIO_000300: 1.544e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 3.15684e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.816e0

MQ
type: SiteQuality
SIO_000300: 5.851e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.955696202531646e-4
allele num: 7584
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.9298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.431e0

DP
type: SiteQuality
SIO_000300: 3.08529e5

QD
type: SiteQuality
SIO_000300: 1.077e1

MQRankSum
type: SiteQuality
SIO_000300: -4.529e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.987e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

MQ
type: SiteQuality
SIO_000300: 5.308e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 2.643404705260375e-4
allele num: 7566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 1.392e0

VQSLOD
type: SiteQuality
SIO_000300: -5.996e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

DP
type: SiteQuality
SIO_000300: 3.0068e5

MQ
type: SiteQuality
SIO_000300: 5.894e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 2.543807e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.794e0

VQSLOD
type: SiteQuality
SIO_000300: -1.377e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.548056e6

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
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South Asian
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allele count: 94
allele frequency: 5.726120857699805e-3
allele num: 16416
num of homozygotes: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

Other
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 7.898894154818325e-4
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

QD
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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SIO_000300: 6.033e1

MQRankSum
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SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8654
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

African
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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African
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East Asian
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Latino
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Other
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Latino
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East Asian
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European (Non-Finnish)
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Other
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Latino
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South Asian
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MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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South Asian
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FS
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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South Asian
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Latino
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InbreedingCoeff
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DP
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MQ
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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South Asian
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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African
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European (Finnish)
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South Asian
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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QD
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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African
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East Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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MQRankSum
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DP
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BaseQRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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African
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Latino
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DP
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Latino
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
all individuals: 4067
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23541
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4658
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 1

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: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.391818472355385e-4
allele num: 6258
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.329e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.273e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.272e0

QD
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 2.561528e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 3.04121e2