2-136418894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418894
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418894
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.1981C>T
  hgvsp: ENSP00000387010.1:p.Arg661Cys
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1148C>T
  hgvsp: ENSP00000403406.2:p.Arg384Cys
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.1978C>T
  hgvsp: ENSP00000264160.4:p.Arg660Cys
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1813C>T
  hgvsp: ENSP00000386877.1:p.Arg605Cys
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1591C>T
  hgvsp: ENSP00000331396.3:p.Arg531Cys
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1594C>T
  hgvsp: ENSP00000386457.1:p.Arg532Cys
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35075
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg660Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-136418895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418895
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418895
    reference: chr 2
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1595G>A
  hgvsp: ENSP00000386457.1:p.Arg532His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.1982G>A
  hgvsp: ENSP00000387010.1:p.Arg661His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1592G>A
  hgvsp: ENSP00000331396.3:p.Arg531His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1814G>A
  hgvsp: ENSP00000386877.1:p.Arg605His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.1979G>A
  hgvsp: ENSP00000264160.4:p.Arg660His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1149G>A
  hgvsp: ENSP00000403406.2:p.Arg384His
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg660His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-136418898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418898
    reference: chr 2
allele count: 42
allele frequency: 3.459466583200171e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1152C>T
  hgvsp: ENSP00000403406.2:p.Pro385Leu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1595C>T
  hgvsp: ENSP00000331396.3:p.Pro532Leu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.1982C>T
  hgvsp: ENSP00000264160.4:p.Pro661Leu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1817C>T
  hgvsp: ENSP00000386877.1:p.Pro606Leu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.1985C>T
  hgvsp: ENSP00000387010.1:p.Pro662Leu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1598C>T
  hgvsp: ENSP00000386457.1:p.Pro533Leu
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
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  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35074
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro661Leu
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-136418908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418908
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.1992T>C
  hgvsp: ENST00000264160.4:c.1992T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1605T>C
  hgvsp: ENST00000329971.3:c.1605T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.1995T>C
  hgvsp: ENST00000409606.1:c.1995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1608T>C
  hgvsp: ENST00000409478.1:c.1608T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1162T>C
  hgvsp: ENST00000429703.2:c.1162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1827T>C
  hgvsp: ENST00000410054.1:c.1827T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser664Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-136418919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418919
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1838A>G
  hgvsp: ENSP00000386877.1:p.Asn613Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1173A>G
  hgvsp: ENSP00000403406.2:p.Asn392Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1616A>G
  hgvsp: ENSP00000331396.3:p.Asn539Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2003A>G
  hgvsp: ENSP00000264160.4:p.Asn668Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1619A>G
  hgvsp: ENSP00000386457.1:p.Asn540Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2006A>G
  hgvsp: ENSP00000387010.1:p.Asn669Ser
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn668Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-136418927-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418927
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418927
    reference: chr 2
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2011C>A
  hgvsp: ENSP00000264160.4:p.Leu671Ile
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1846C>A
  hgvsp: ENSP00000386877.1:p.Leu616Ile
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2014C>A
  hgvsp: ENSP00000387010.1:p.Leu672Ile
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1627C>A
  hgvsp: ENSP00000386457.1:p.Leu543Ile
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1181C>A
  hgvsp: ENSP00000403406.2:p.Leu395Ile
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1624C>A
  hgvsp: ENSP00000331396.3:p.Leu542Ile
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35057
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu671Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

2-136418928-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418928
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1182T>A
  hgvsp: ENSP00000403406.2:p.Leu395Gln
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1847T>A
  hgvsp: ENSP00000386877.1:p.Leu616Gln
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2012T>A
  hgvsp: ENSP00000264160.4:p.Leu671Gln
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1625T>A
  hgvsp: ENSP00000331396.3:p.Leu542Gln
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1628T>A
  hgvsp: ENSP00000386457.1:p.Leu543Gln
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2015T>A
  hgvsp: ENSP00000387010.1:p.Leu672Gln
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu671Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

2-136418932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418932
    reference: chr 2
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2019C>T
  hgvsp: ENST00000409606.1:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2016C>T
  hgvsp: ENST00000264160.4:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1186C>T
  hgvsp: ENST00000429703.2:c.1186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1632C>T
  hgvsp: ENST00000409478.1:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1629C>T
  hgvsp: ENST00000329971.3:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1851C>T
  hgvsp: ENST00000410054.1:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn672Asn
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-136418935-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418935
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1854A>G
  hgvsp: ENST00000410054.1:c.1854A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2019A>G
  hgvsp: ENST00000264160.4:c.2019A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1189A>G
  hgvsp: ENST00000429703.2:c.1189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2022A>G
  hgvsp: ENST00000409606.1:c.2022A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1632A>G
  hgvsp: ENST00000329971.3:c.1632A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1635A>G
  hgvsp: ENST00000409478.1:c.1635A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln673Gln
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-136418938-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418938
    reference: chr 2
allele count: 3
allele frequency: 2.480650922802143e-5
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1192A>C
  hgvsp: ENST00000429703.2:c.1192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2025A>C
  hgvsp: ENST00000409606.1:c.2025A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1638A>C
  hgvsp: ENST00000409478.1:c.1638A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1635A>C
  hgvsp: ENST00000329971.3:c.1635A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2022A>C
  hgvsp: ENST00000264160.4:c.2022A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1857A>C
  hgvsp: ENST00000410054.1:c.1857A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 34668
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro674Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-136418952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418952
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418952
    reference: chr 2
allele count: 18
allele frequency: 1.48294611962432e-4
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2039C>T
  hgvsp: ENSP00000387010.1:p.Ala680Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2036C>T
  hgvsp: ENSP00000264160.4:p.Ala679Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1206C>T
  hgvsp: ENSP00000403406.2:p.Ala403Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1652C>T
  hgvsp: ENSP00000386457.1:p.Ala551Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1871C>T
  hgvsp: ENSP00000386877.1:p.Ala624Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1649C>T
  hgvsp: ENSP00000331396.3:p.Ala550Val
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35016
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala679Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-136418953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418953
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418953
    reference: chr 2
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1650G>A
  hgvsp: ENST00000329971.3:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1653G>A
  hgvsp: ENST00000409478.1:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2040G>A
  hgvsp: ENST00000409606.1:c.2040G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1872G>A
  hgvsp: ENST00000410054.1:c.1872G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1207G>A
  hgvsp: ENST00000429703.2:c.1207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2037G>A
  hgvsp: ENST00000264160.4:c.2037G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35010
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala679Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-136418953-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418953
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418953
    reference: chr 2
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1207G>T
  hgvsp: ENST00000429703.2:c.1207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2040G>T
  hgvsp: ENST00000409606.1:c.2040G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1872G>T
  hgvsp: ENST00000410054.1:c.1872G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1650G>T
  hgvsp: ENST00000329971.3:c.1650G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2037G>T
  hgvsp: ENST00000264160.4:c.2037G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1653G>T
  hgvsp: ENST00000409478.1:c.1653G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35010
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala679Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

2-136418980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136418980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136418980
    reference: chr 2
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+17A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+17A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+17A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+17A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+17A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+17A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7432
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

2-136422917-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422917
    reference: chr 2
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+3954T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+3954T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+3954T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+3954T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+3954T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+3954T>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16801
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-136422919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422919
    reference: chr 2
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+3956T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+3956T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+3956T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+3956T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+3956T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+3956T>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16837
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-136422934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422934
    reference: chr 2
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+3971C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+3971C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+3971C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+3971C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+3971C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+3971C>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16787
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-136422935-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422935
    reference: chr 2
allele count: 3
allele frequency: 2.485707183693761e-5
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+3972A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+3972A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+3972A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+3972A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+3972A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+3972A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16792
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-136422949-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422949
    reference: chr 2
allele count: 3
allele frequency: 2.483772685123857e-5
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+3986A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+3986A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+3986A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+3986A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+3986A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+3986A>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-136422959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422959
    reference: chr 2
allele count: 8
allele frequency: 6.620214825971103e-5
allele num: 120842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+3996C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+3996C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+3996C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+3996C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+3996C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+3996C>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

2-136422981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422981
    reference: chr 2
allele count: 2
allele frequency: 1.65456079683648e-5
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4018C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4018C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4018C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207654
  ensembl transcript: ENST00000384921
  gene symbol: MIR128-1
  hgvsc: ENST00000384921.1:n.15C>T
  variant of: http://identifiers.org/hgnc/31510
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4018C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4018C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4018C>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-136422984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422984
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422984
    reference: chr 2
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4021G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4021G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4021G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207654
  ensembl transcript: ENST00000384921
  gene symbol: MIR128-1
  hgvsc: ENST00000384921.1:n.18G>A
  variant of: http://identifiers.org/hgnc/31510
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4021G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4021G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4021G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-136422988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422988
    reference: chr 2
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4025G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4025G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207654
  ensembl transcript: ENST00000384921
  gene symbol: MIR128-1
  hgvsc: ENST00000384921.1:n.22G>A
  variant of: http://identifiers.org/hgnc/31510
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4025G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4025G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4025G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4025G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-136422991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136422991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136422991
    reference: chr 2
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4028G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4028G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4028G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207654
  ensembl transcript: ENST00000384921
  gene symbol: MIR128-1
  hgvsc: ENST00000384921.1:n.25G>A
  variant of: http://identifiers.org/hgnc/31510
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4028G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4028G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4028G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-136423009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423009
    reference: chr 2
allele count: 6
allele frequency: 4.963189676565473e-5
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4046A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4046A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207654
  ensembl transcript: ENST00000384921
  gene symbol: MIR128-1
  hgvsc: ENST00000384921.1:n.43A>G
  variant of: http://identifiers.org/hgnc/31510
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4046A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4046A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4046A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4046A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-136423020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423020
    reference: chr 2
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4057A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4057A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4057A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4057A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4057A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000207654
  ensembl transcript: ENST00000384921
  gene symbol: MIR128-1
  hgvsc: ENST00000384921.1:n.54A>G
  variant of: http://identifiers.org/hgnc/31510
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4057A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: mature miRNA
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

2-136423044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423044
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423044
    reference: chr 2
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4081G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4081G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4081G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207654
  ensembl transcript: ENST00000384921
  gene symbol: MIR128-1
  hgvsc: ENST00000384921.1:n.78G>A
  variant of: http://identifiers.org/hgnc/31510
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4081G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4081G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4081G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16223
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-136423049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423049
    reference: chr 2
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4086C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4086C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4086C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4086C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4086C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4086C>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-136423057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423057
    reference: chr 2
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4094T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4094T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4094T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4094T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4094T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4094T>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
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genotype quality: GenotypeQuality
  all individuals: 2231
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16790
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16045
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-136423073-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423073
    reference: chr 2
allele count: 2
allele frequency: 1.660660610790973e-5
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4110C>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4110C>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4110C>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4110C>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4110C>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4110C>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14973
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-136423084-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423083
    reference: chr 2
allele count: 4
allele frequency: 3.329837004478631e-5
allele num: 120126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4122delG
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4122delG
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4122delG
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4122delG
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4122delG
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4122delG
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12668
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16780
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: TG
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-136423087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136423087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136423087
    reference: chr 2
allele count: 5
allele frequency: 4.171951138108271e-5
allele num: 119848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1882+4124T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1660+4124T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2047+4124T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1217+4124T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1663+4124T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2050+4124T>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-136432857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432857
    reference: chr 2
allele count: 1
allele frequency: 8.399408681628814e-6
allele num: 119056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-45A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-45A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-45A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-45A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-45A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-45A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-136432862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432862
    reference: chr 2
allele count: 1
allele frequency: 8.388558006878617e-6
allele num: 119210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-40A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-40A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-40A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-40A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-40A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-40A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-136432864-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432864
    reference: chr 2
allele count: 1
allele frequency: 8.38940250675347e-6
allele num: 119198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-38G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-38G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-38G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-38G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-38G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-38G>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-136432874-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432874
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432874
    reference: chr 2
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-28C>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-28C>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-28C>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-28C>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-28C>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-28C>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-136432877-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432877
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432877
    reference: chr 2
allele count: 3
allele frequency: 2.504884524823406e-5
allele num: 119766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-25G>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-25G>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-25G>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-25G>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-25G>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-25G>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2423
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genotype quality: GenotypeQuality
  all individuals: 111
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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genotype quality: GenotypeQuality
  all individuals: 138
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genotype quality: GenotypeQuality
  all individuals: 11383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25349
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-136432881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432881
    reference: chr 2
allele count: 11
allele frequency: 9.174771047758853e-5
allele num: 119894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-21T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-21T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-21T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-21T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-21T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-21T>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25359
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-136432888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432888
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432888
    reference: chr 2
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-14T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-14T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-14T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-14T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-14T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-14T>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

2-136432892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432892
    reference: chr 2
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-10A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-10A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-10A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-10A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-10A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-10A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-136432895-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432895
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432895
    reference: chr 2
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051-7A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661-7A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883-7A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048-7A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664-7A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218-7A>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
hgvs: c.2048-7A>T
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-136432902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432902
    reference: chr 2
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2051G>A
  hgvsp: ENSP00000387010.1:p.Gly684Asp
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1218G>A
  hgvsp: ENSP00000403406.2:p.Gly407Asp
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1661G>A
  hgvsp: ENSP00000331396.3:p.Gly554Asp
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2048G>A
  hgvsp: ENSP00000264160.4:p.Gly683Asp
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1883G>A
  hgvsp: ENSP00000386877.1:p.Gly628Asp
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1664G>A
  hgvsp: ENSP00000386457.1:p.Gly555Asp
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly683Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

2-136432928-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432928
    reference: chr 2
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1244C>G
  hgvsp: ENSP00000403406.2:p.Gln416Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1690C>G
  hgvsp: ENSP00000386457.1:p.Gln564Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2074C>G
  hgvsp: ENSP00000264160.4:p.Gln692Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1909C>G
  hgvsp: ENSP00000386877.1:p.Gln637Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2077C>G
  hgvsp: ENSP00000387010.1:p.Gln693Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1687C>G
  hgvsp: ENSP00000331396.3:p.Gln563Glu
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25356
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln692Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-136432937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432937
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2086C>G
  hgvsp: ENSP00000387010.1:p.Gln696Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1253C>G
  hgvsp: ENSP00000403406.2:p.Gln419Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2083C>G
  hgvsp: ENSP00000264160.4:p.Gln695Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1918C>G
  hgvsp: ENSP00000386877.1:p.Gln640Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1696C>G
  hgvsp: ENSP00000331396.3:p.Gln566Glu
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1699C>G
  hgvsp: ENSP00000386457.1:p.Gln567Glu
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13616
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln695Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-136432938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432938
    reference: chr 2
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1919A>G
  hgvsp: ENSP00000386877.1:p.Gln640Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2084A>G
  hgvsp: ENSP00000264160.4:p.Gln695Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2087A>G
  hgvsp: ENSP00000387010.1:p.Gln696Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1700A>G
  hgvsp: ENSP00000386457.1:p.Gln567Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1697A>G
  hgvsp: ENSP00000331396.3:p.Gln566Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1254A>G
  hgvsp: ENSP00000403406.2:p.Gln419Arg
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25357
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln695Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-136432939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432939
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432939
    reference: chr 2
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2088A>G
  hgvsp: ENST00000409606.1:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2085A>G
  hgvsp: ENST00000264160.4:c.2085A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1255A>G
  hgvsp: ENST00000429703.2:c.1255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1920A>G
  hgvsp: ENST00000410054.1:c.1920A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1698A>G
  hgvsp: ENST00000329971.3:c.1698A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1701A>G
  hgvsp: ENST00000409478.1:c.1701A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln695Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-136432959-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432959
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1721A>C
  hgvsp: ENSP00000386457.1:p.Gln574Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2105A>C
  hgvsp: ENSP00000264160.4:p.Gln702Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1940A>C
  hgvsp: ENSP00000386877.1:p.Gln647Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2108A>C
  hgvsp: ENSP00000387010.1:p.Gln703Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1718A>C
  hgvsp: ENSP00000331396.3:p.Gln573Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1275A>C
  hgvsp: ENSP00000403406.2:p.Gln426Pro
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln702Pro
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-136432978-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432978
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432978
    reference: chr 2
allele count: 6
allele frequency: 4.943886883868097e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1740A>G
  hgvsp: ENST00000409478.1:c.1740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2127A>G
  hgvsp: ENST00000409606.1:c.2127A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1294A>G
  hgvsp: ENST00000429703.2:c.1294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1959A>G
  hgvsp: ENST00000410054.1:c.1959A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2124A>G
  hgvsp: ENST00000264160.4:c.2124A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.11A>G
  hgvsp: ENST00000445855.1:c.11A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1737A>G
  hgvsp: ENST00000329971.3:c.1737A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25362
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Leu708Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-136432982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432982
    reference: chr 2
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1744A>G
  hgvsp: ENSP00000386457.1:p.Ser582Gly
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1741A>G
  hgvsp: ENSP00000331396.3:p.Ser581Gly
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2131A>G
  hgvsp: ENSP00000387010.1:p.Ser711Gly
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1298A>G
  hgvsp: ENSP00000403406.2:p.Ser434Gly
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2128A>G
  hgvsp: ENSP00000264160.4:p.Ser710Gly
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.15A>G
  hgvsp: ENSP00000413763.1:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1963A>G
  hgvsp: ENSP00000386877.1:p.Ser655Gly
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser710Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-136432989-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432989
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432989
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1305A>C
  hgvsp: ENSP00000403406.2:p.Gln436Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2138A>C
  hgvsp: ENSP00000387010.1:p.Gln713Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.22A>C
  hgvsp: ENSP00000413763.1:p.Gln8Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1748A>C
  hgvsp: ENSP00000331396.3:p.Gln583Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1970A>C
  hgvsp: ENSP00000386877.1:p.Gln657Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1751A>C
  hgvsp: ENSP00000386457.1:p.Gln584Pro
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2135A>C
  hgvsp: ENSP00000264160.4:p.Gln712Pro
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln712Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-136432992-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432992
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432992
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1754C>G
  hgvsp: ENSP00000386457.1:p.Pro585Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1973C>G
  hgvsp: ENSP00000386877.1:p.Pro658Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2138C>G
  hgvsp: ENSP00000264160.4:p.Pro713Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2141C>G
  hgvsp: ENSP00000387010.1:p.Pro714Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1308C>G
  hgvsp: ENSP00000403406.2:p.Pro437Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.25C>G
  hgvsp: ENSP00000413763.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1751C>G
  hgvsp: ENSP00000331396.3:p.Pro584Arg
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro713Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

2-136432995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136432995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136432995
    reference: chr 2
allele count: 9
allele frequency: 7.41521932570939e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2141A>G
  hgvsp: ENSP00000264160.4:p.Asn714Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1754A>G
  hgvsp: ENSP00000331396.3:p.Asn585Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1311A>G
  hgvsp: ENSP00000403406.2:p.Asn438Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.28A>G
  hgvsp: ENSP00000413763.1:p.Asn10Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2144A>G
  hgvsp: ENSP00000387010.1:p.Asn715Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1757A>G
  hgvsp: ENSP00000386457.1:p.Asn586Ser
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1976A>G
  hgvsp: ENSP00000386877.1:p.Asn659Ser
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn714Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-136433011-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433011
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433011
    reference: chr 2
allele count: 7
allele frequency: 5.767582888405511e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1327G>C
  hgvsp: ENSP00000403406.2:p.Gln443His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1770G>C
  hgvsp: ENSP00000331396.3:p.Gln590His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.44G>C
  hgvsp: ENSP00000413763.1:p.Gln15His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1773G>C
  hgvsp: ENSP00000386457.1:p.Gln591His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2157G>C
  hgvsp: ENSP00000264160.4:p.Gln719His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.1992G>C
  hgvsp: ENSP00000386877.1:p.Gln664His
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2160G>C
  hgvsp: ENSP00000387010.1:p.Gln720His
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln719His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-136433027-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433027
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1786A>G
  hgvsp: ENSP00000331396.3:p.Ile596Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.60A>G
  hgvsp: ENSP00000413763.1:p.Ile21Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1343A>G
  hgvsp: ENSP00000403406.2:p.Ile449Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2173A>G
  hgvsp: ENSP00000264160.4:p.Ile725Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2008A>G
  hgvsp: ENSP00000386877.1:p.Ile670Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2176A>G
  hgvsp: ENSP00000387010.1:p.Ile726Val
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1789A>G
  hgvsp: ENSP00000386457.1:p.Ile597Val
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile725Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-136433038-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433038
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433038
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1797T>C
  hgvsp: ENST00000329971.3:c.1797T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.71T>C
  hgvsp: ENST00000445855.1:c.71T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2184T>C
  hgvsp: ENST00000264160.4:c.2184T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2019T>C
  hgvsp: ENST00000410054.1:c.2019T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1354T>C
  hgvsp: ENST00000429703.2:c.1354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2187T>C
  hgvsp: ENST00000409606.1:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1800T>C
  hgvsp: ENST00000409478.1:c.1800T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr728Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-136433047-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433047
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433047
    reference: chr 2
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2193A>C
  hgvsp: ENST00000264160.4:c.2193A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1806A>C
  hgvsp: ENST00000329971.3:c.1806A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.80A>C
  hgvsp: ENST00000445855.1:c.80A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2028A>C
  hgvsp: ENST00000410054.1:c.2028A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1363A>C
  hgvsp: ENST00000429703.2:c.1363A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2196A>C
  hgvsp: ENST00000409606.1:c.2196A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1809A>C
  hgvsp: ENST00000409478.1:c.1809A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro731Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-136433050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433050
    reference: chr 2
allele count: 3
allele frequency: 2.479420807299415e-5
allele num: 120996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2199A>G
  hgvsp: ENST00000409606.1:c.2199A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.83A>G
  hgvsp: ENST00000445855.1:c.83A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2031A>G
  hgvsp: ENST00000410054.1:c.2031A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1809A>G
  hgvsp: ENST00000329971.3:c.1809A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1366A>G
  hgvsp: ENST00000429703.2:c.1366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1812A>G
  hgvsp: ENST00000409478.1:c.1812A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2196A>G
  hgvsp: ENST00000264160.4:c.2196A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr732Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-136433050-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433050
    reference: chr 2
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1812A>T
  hgvsp: ENST00000409478.1:c.1812A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1809A>T
  hgvsp: ENST00000329971.3:c.1809A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1366A>T
  hgvsp: ENST00000429703.2:c.1366A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.83A>T
  hgvsp: ENST00000445855.1:c.83A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2199A>T
  hgvsp: ENST00000409606.1:c.2199A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2031A>T
  hgvsp: ENST00000410054.1:c.2031A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2196A>T
  hgvsp: ENST00000264160.4:c.2196A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr732Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-136433058-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433058
    reference: chr 2
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+2T>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+2T>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+2T>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+2T>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+2T>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+2T>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+2T>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2202+2T>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-136433063-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433063
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433063
    reference: chr 2
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+7T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+7T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+7T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+7T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+7T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+7T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+7T>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25363
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2202+7T>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-136433064-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433064
    reference: chr 2
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+8G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+8G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+8G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+8G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+8G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+8G>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+8G>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2202+8G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-136433074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433074
    reference: chr 2
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+18T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+18T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+18T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+18T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+18T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+18T>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+18T>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-136433075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433075
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433075
    reference: chr 2
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+19G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+19G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+19G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+19G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+19G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+19G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+19G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

2-136433077-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433077
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433077
    reference: chr 2
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+21A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+21A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+21A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+21A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+21A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+21A>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+21A>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-136433080-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433080
    reference: chr 2
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+24T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+24T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+24T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+24T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+24T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+24T>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+24T>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-136433082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433082
    reference: chr 2
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+26G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+26G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+26G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+26G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+26G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+26G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+26G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-136433083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433083
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433083
    reference: chr 2
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+27G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+27G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+27G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+27G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+27G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+27G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+27G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-136433087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433087
    reference: chr 2
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+31G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+31G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+31G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+31G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+31G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+31G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+31G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-136433088-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433088
    reference: chr 2
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+32A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+32A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+32A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+32A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+32A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+32A>C
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+32A>C
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-136433088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433088
    reference: chr 2
allele count: 3
allele frequency: 2.502502502502503e-5
allele num: 119880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+32A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+32A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+32A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+32A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+32A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+32A>G
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+32A>G
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-136433092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433092
    reference: chr 2
allele count: 5
allele frequency: 4.178924846215566e-5
allele num: 119648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+36G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+36G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+36G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+36G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+36G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+36G>A
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+36G>A
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25355
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-136433097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 136433097
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 136433097
    reference: chr 2
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000413763
  ensembl transcript: ENST00000445855
  gene symbol: R3HDM1
  hgvsc: ENST00000445855.1:c.89+41C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386877
  ensembl transcript: ENST00000410054
  gene symbol: R3HDM1
  hgvsc: ENST00000410054.1:c.2037+41C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000403406
  ensembl transcript: ENST00000429703
  gene symbol: R3HDM1
  hgvsc: ENST00000429703.2:c.1372+41C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000387010
  ensembl transcript: ENST00000409606
  gene symbol: R3HDM1
  hgvsc: ENST00000409606.1:c.2205+41C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000264160
  ensembl transcript: ENST00000264160
  gene symbol: R3HDM1
  hgvsc: ENST00000264160.4:c.2202+41C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000386457
  ensembl transcript: ENST00000409478
  gene symbol: R3HDM1
  hgvsc: ENST00000409478.1:c.1818+41C>T
  variant of: http://identifiers.org/hgnc/9757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048991
  ensembl protein: ENSP00000331396
  ensembl transcript: ENST00000329971
  gene symbol: R3HDM1
  hgvsc: ENST00000329971.3:c.1815+41C>T
  variant of: http://identifiers.org/hgnc/9757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.015644e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

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

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 35073
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 5.75e1
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: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

FS
type: SiteQuality
SIO_000300: 5.026e0

VQSLOD
type: SiteQuality
SIO_000300: -5.983000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e0

DP
type: SiteQuality
SIO_000300: 3.015657e6

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.394389834572045e-4
allele num: 66736
num of homozygotes: 1

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
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

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

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
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: 1.276e1

DP
type: SiteQuality
SIO_000300: 3.018113e6

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 8654
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

DP
type: SiteQuality
SIO_000300: 3.014638e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

QD
type: SiteQuality
SIO_000300: 1.2e1

FS
type: SiteQuality
SIO_000300: 2.085e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 3895
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1765
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

DP
type: SiteQuality
SIO_000300: 3.014354e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
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: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.014167e6

FS
type: SiteQuality
SIO_000300: 5.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3894
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 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: 6610
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.547e0

VQSLOD
type: SiteQuality
SIO_000300: -1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.498e0

DP
type: SiteQuality
SIO_000300: 3.01413e6

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.565e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 3277
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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 (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: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.609e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 3.015376e6

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 5.825e1

FS
type: SiteQuality
SIO_000300: 5.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

DP
type: SiteQuality
SIO_000300: 3.013539e6

QD
type: SiteQuality
SIO_000300: 1.238e1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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African
type: Population
allele count: 3
allele frequency: 2.909231962761831e-4
allele num: 10312
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: 894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.00421e2

VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 3.028979e6

GenotypeQuality
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bin: 7.5e0
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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GenotypeQuality
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GenotypeQuality
all individuals: 7633
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GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 17
allele frequency: 1.964863615349052e-3
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.011512e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.198e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

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: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3903
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 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: 66716
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: 8654
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: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

FS
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 3.010461e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.552e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
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
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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: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
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: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.552e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.010461e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.957e1

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
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 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: 66684
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e0

VQSLOD
type: SiteQuality
SIO_000300: -2.677e0

FS
type: SiteQuality
SIO_000300: 1.6806e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 3.007058e6

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 282
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.587e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

DP
type: SiteQuality
SIO_000300: 2.37482e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.424e0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

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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bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.341e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.311e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 2.376218e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.416e0

MQ
type: SiteQuality
SIO_000300: 5.723e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 1.32e0

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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variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.175e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.393433e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
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: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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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: 11538
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.059871530723549e-5
allele num: 16502
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10344
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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: 6598
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.019232511095679e-5
allele num: 66242
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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DP
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
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East Asian
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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: 7
allele frequency: 1.056221142529499e-4
allele num: 66274
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

East Asian
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allele num: 8652
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African
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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QD
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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
all individuals: 2232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -5.17e-2

QD
type: SiteQuality
SIO_000300: 7.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

DP
type: SiteQuality
SIO_000300: 2.398187e6

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 1.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeQuality
all individuals: 16792
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.042e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 2.398286e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 3.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.439e0

VQSLOD
type: SiteQuality
SIO_000300: -1.555e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.315e0

DP
type: SiteQuality
SIO_000300: 2.398305e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16792
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.934812760055479e-4
allele num: 8652
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: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 2.398577e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.558e1

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5353
bin: 7.75e1
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: 1.508523155830442e-5
allele num: 66290
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

FS
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 2.398051e6

QD
type: SiteQuality
SIO_000300: 1.527e1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3713
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16790
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.152e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.397035e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.099e0

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

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

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.184e-1

FS
type: SiteQuality
SIO_000300: 6.885e0

DP
type: SiteQuality
SIO_000300: 2.396766e6

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7899
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5346
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.866e0

DP
type: SiteQuality
SIO_000300: 2.395238e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e0

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

GenotypeQuality
all individuals: 3662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16785
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5302
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.935733643050716e-4
allele num: 10332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.381119e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e0

QD
type: SiteQuality
SIO_000300: 1.301e1

FS
type: SiteQuality
SIO_000300: 1.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 6955
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517680983457277e-5
allele num: 65890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: 3
allele frequency: 2.608695652173913e-4
allele num: 11500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 7.335e0

QD
type: SiteQuality
SIO_000300: 1.598e1

DP
type: SiteQuality
SIO_000300: 2.352767e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16748
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 646
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.615974886641088e-4
allele num: 11468
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.041732570872369e-5
allele num: 65752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.344486e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

GenotypeQuality
all individuals: 1106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25311
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 1.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

DP
type: SiteQuality
SIO_000300: 2.262884e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.926e0

VQSLOD
type: SiteQuality
SIO_000300: -3.781e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.274422e6

QD
type: SiteQuality
SIO_000300: 5.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 956
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.455e0

QD
type: SiteQuality
SIO_000300: 1.13e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.549e0

DP
type: SiteQuality
SIO_000300: 2.278855e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25344
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511121856866538e-5
allele num: 66176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.296628e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.077e0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

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

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15506
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.242e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

DP
type: SiteQuality
SIO_000300: 2.301303e6

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.568e1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 11640
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.275214467887781e-3
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.305634e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.489e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 3997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
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variant carriers: 0

GenotypeQuality
all individuals: 25353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4551
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.9e0

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 2.313804e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.854e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

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
all individuals: 2381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4000
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variant carriers: 0

GenotypeQuality
all individuals: 12525
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.17e-1

DP
type: SiteQuality
SIO_000300: 2.317812e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 176
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12528
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 900
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

DP
type: SiteQuality
SIO_000300: 2.321304e6

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: -5.858e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.569e0

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

GenotypeQuality
all individuals: 3863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 25355
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variant carriers: 1

GenotypeQuality
all individuals: 2382
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16370808678501e-5
allele num: 16224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.51e0

FS
type: SiteQuality
SIO_000300: 4.212e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
type: SiteQuality
SIO_000300: 2.326995e6

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: -1.902e0

GenotypeQuality
all individuals: 15
bin: 2.75e1
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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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
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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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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allele frequency: 1.923076923076923e-4
allele num: 10400
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.352e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

QD
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SIO_000300: 1.151e1

ReadPosRankSum
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SIO_000300: -7.29e-1

FS
type: SiteQuality
SIO_000300: 1.3952e1

MQRankSum
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SIO_000300: -2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

DP
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VQSLOD
type: SiteQuality
SIO_000300: -2.2e0

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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bin: 9.75e1
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African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
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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

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: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.55e0

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.626e0

BaseQRankSum
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SIO_000300: -1.481e0

DP
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SIO_000300: 2.336885e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
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SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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Other
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allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
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European (Finnish)
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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: 10402
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.255e0

FS
type: SiteQuality
SIO_000300: 5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
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SIO_000300: 2.336747e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8648
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.185e0

ReadPosRankSum
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SIO_000300: 1.13e0

InbreedingCoeff
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DP
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QD
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SIO_000300: 1.381e1

BaseQRankSum
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SIO_000300: 3.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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variant carriers: 0

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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bin: 4.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 66718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 6.696e0

DP
type: SiteQuality
SIO_000300: 2.337611e6

VQSLOD
type: SiteQuality
SIO_000300: -9.593e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-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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GenotypeQuality
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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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

Latino
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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: 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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 1.123e0

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.338535e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-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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bin: 9.75e1
variant carriers: 2

European (Finnish)
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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
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Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.21153380179307e-4
allele num: 16508
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

African
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East Asian
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

FS
type: SiteQuality
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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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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East Asian
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num of homozygotes: 0

South Asian
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Latino
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European (Finnish)
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Other
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African
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allele count: 1
allele frequency: 9.611687812379854e-5
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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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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European (Finnish)
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allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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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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South Asian
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African
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MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
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ClippingRankSum
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SIO_000300: -6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.338599e6

GenotypeQuality
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variant carriers: 7

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

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

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

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

Latino
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allele frequency: 5.188516084399862e-4
allele num: 11564
num of homozygotes: 0

South Asian
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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
allele num: 6614
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-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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variant carriers: 1

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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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

South Asian
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allele frequency: 6.062810719049351e-5
allele num: 16494
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ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -2.15e-1

InbreedingCoeff
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FS
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.337538e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.7766e1

QD
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DP
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
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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: 6612
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.157e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

DP
type: SiteQuality
SIO_000300: 2.333417e6

BaseQRankSum
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SIO_000300: 2.6e0

ClippingRankSum
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SIO_000300: -1.538e0

VQSLOD
type: SiteQuality
SIO_000300: -1.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 6.44e0

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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bin: 9.75e1
variant carriers: 3

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
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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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

East Asian
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South Asian
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allele num: 16294
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African
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allele num: 10400
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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: 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 frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

African
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Other
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South Asian
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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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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variant carriers: 0

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

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Latino
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Other
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DP
type: SiteQuality
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MQRankSum
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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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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East Asian
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allele num: 8642
num of homozygotes: 0

European (Finnish)
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Latino
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MQ
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.028e0

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 2.30744e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 4135
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25360
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
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: 15772
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.321e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 5.462e0

QD
type: SiteQuality
SIO_000300: 1.109e1

DP
type: SiteQuality
SIO_000300: 2.303546e6

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

GenotypeQuality
all individuals: 25360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.34517766497462e-5
allele num: 15760
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

DP
type: SiteQuality
SIO_000300: 2.303254e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.417e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 2412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
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: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.299687e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10160
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.375924509053813e-5
allele num: 15684
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: 898
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -3.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.632e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.403e0

QD
type: SiteQuality
SIO_000300: 1.034e1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 2.296233e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.38e0

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

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.376737661012626e-5
allele num: 15682
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.176e0

FS
type: SiteQuality
SIO_000300: 4.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.597e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.536e0

DP
type: SiteQuality
SIO_000300: 2.296157e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3862
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4371
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.291506e6

QD
type: SiteQuality
SIO_000300: 2.004e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 3.177e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

MQ
type: SiteQuality
SIO_000300: 5.841e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.838e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15534
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 1.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 2.289172e6

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25358
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 3.25e1
variant carriers: 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: 15534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.596952908587258e-4
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

DP
type: SiteQuality
SIO_000300: 2.289172e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.611e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 1869
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
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variant carriers: 0

GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 3863
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.553782934493594e-5
allele num: 66192
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.215e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 7.915e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 2.286072e6

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25353
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.583278472679394e-5
allele num: 15190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.31e-2

DP
type: SiteQuality
SIO_000300: 2.282118e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.15e0

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1