5-140263473-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263473
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263473
    reference: chr 5
allele count: 4
allele frequency: 3.353847701775862e-5
allele num: 119266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59761T>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86536T>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53403T>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80297T>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26241T>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12394T>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6049T>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74316T>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95061T>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40173T>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95061T>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1620T>G
  hgvsp: ENST00000409494.1:c.1620T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25452T>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54195T>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47150T>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1620T>G
  hgvsp: ENST00000289272.2:c.1620T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59761T>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74316T>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+32999T>G
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ser540Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

5-140263473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263473
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263473
    reference: chr 5
allele count: 2
allele frequency: 1.676923850887931e-5
allele num: 119266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12394T>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74316T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26241T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25452T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6049T>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1620T>C
  hgvsp: ENST00000289272.2:c.1620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54195T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59761T>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74316T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53403T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86536T>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40173T>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95061T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1620T>C
  hgvsp: ENST00000409494.1:c.1620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47150T>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80297T>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+32999T>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95061T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59761T>C
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser540Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

5-140263481-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263481
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263481
    reference: chr 5
allele count: 1
allele frequency: 8.390106386548982e-6
allele num: 119188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40181C>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26249C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25460C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95053C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80305C>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86544C>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12402C>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59769C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33007C>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95053C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59769C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74324C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1628C>G
  hgvsp: ENSP00000386821.1:p.Pro543Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47158C>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74324C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1628C>G
  hgvsp: ENSP00000289272.2:p.Pro543Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53411C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6057C>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54203C>G
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro543Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/5-140263483-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263483
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263483
    reference: chr 5
allele count: 1
allele frequency: 8.389120987902887e-6
allele num: 119202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59771C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74326C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80307C>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12404C>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25462C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1630C>A
  hgvsp: ENSP00000289272.2:p.Pro544Thr
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26251C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59771C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1630C>A
  hgvsp: ENSP00000386821.1:p.Pro544Thr
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54205C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86546C>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53413C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74326C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40183C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47160C>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6059C>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33009C>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95051C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95051C>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro544Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

5-140263485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263485
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263485
    reference: chr 5
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33011T>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40185T>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47162T>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95049T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1632T>C
  hgvsp: ENST00000409494.1:c.1632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86548T>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12406T>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53415T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1632T>C
  hgvsp: ENST00000289272.2:c.1632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74328T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6061T>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95049T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59773T>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59773T>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26253T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80309T>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54207T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25464T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74328T>C
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro544Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

5-140263489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263489
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263489
    reference: chr 5
allele count: 412
allele frequency: 3.458348722425545e-3
allele num: 119132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59777G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74332G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53419G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26257G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40189G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80313G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25468G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95045G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54211G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86552G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6065G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12410G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1636G>A
  hgvsp: ENSP00000289272.2:p.Gly546Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1636G>A
  hgvsp: ENSP00000386821.1:p.Gly546Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59777G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33015G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95045G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74332G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47166G>A
  variant of: http://identifiers.org/hgnc/8673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Gly546Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-140263490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263490
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263490
    reference: chr 5
allele count: 1
allele frequency: 8.393204861344255e-6
allele num: 119144
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12411G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47167G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74333G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26258G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1637G>C
  hgvsp: ENSP00000386821.1:p.Gly546Ala
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54212G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33016G>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40190G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25469G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86553G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1637G>C
  hgvsp: ENSP00000289272.2:p.Gly546Ala
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74333G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80314G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59778G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95044G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59778G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53420G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95044G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6066G>C
  variant of: http://identifiers.org/hgnc/8666
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly546Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-140263494-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263494
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263493
    reference: chr 5
allele count: 1
allele frequency: 8.394191219675984e-6
allele num: 119130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26264delA
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12417delA
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59784delA
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47173delA
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25475delA
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95038delA
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6072delA
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1643delA
  hgvsp: ENSP00000289272.2:p.Asn548ThrfsTer2
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59784delA
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54218delA
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1643delA
  hgvsp: ENSP00000386821.1:p.Asn548ThrfsTer2
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80320delA
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86559delA
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74339delA
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53426delA
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33022delA
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74339delA
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95038delA
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40196delA
  variant of: http://identifiers.org/hgnc/8674
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn548ThrfsTer2
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: CA
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-140263497-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263497
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263497
    reference: chr 5
allele count: 1
allele frequency: 8.397010664203544e-6
allele num: 119090
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86560C>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1644C>G
  hgvsp: ENSP00000289272.2:p.Asn548Lys
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40197C>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59785C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95037C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59785C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6073C>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74340C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12418C>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1644C>G
  hgvsp: ENSP00000386821.1:p.Asn548Lys
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80321C>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47174C>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53427C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26265C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95037C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33023C>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54219C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74340C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25476C>G
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn548Lys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-140263498-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263498
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263498
    reference: chr 5
allele count: 1
allele frequency: 8.397433744247758e-6
allele num: 119084
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86561G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53428G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12419G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74341G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1645G>T
  hgvsp: ENSP00000386821.1:p.Val549Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59786G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54220G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95036G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40198G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1645G>T
  hgvsp: ENSP00000289272.2:p.Val549Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6074G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59786G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74341G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25477G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47175G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26266G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95036G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33024G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80322G>T
  variant of: http://identifiers.org/hgnc/8669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val549Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

5-140263512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263512
    reference: chr 5
allele count: 1
allele frequency: 8.40279645065878e-6
allele num: 119008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59800G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1659G>A
  hgvsp: ENST00000409494.1:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86575G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54234G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12433G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1659G>A
  hgvsp: ENST00000289272.2:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25491G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26280G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74355G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80336G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95022G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53442G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33038G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59800G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74355G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6088G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40212G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47189G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95022G>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val553Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

5-140263522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263522
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263522
    reference: chr 5
allele count: 1
allele frequency: 8.4088730428348e-6
allele num: 118922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59810G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1669G>A
  hgvsp: ENSP00000386821.1:p.Asp557Asn
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95012G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54244G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40222G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25501G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59810G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74365G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6098G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74365G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80346G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86585G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12443G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95012G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47199G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26290G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1669G>A
  hgvsp: ENSP00000289272.2:p.Asp557Asn
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53452G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33048G>A
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp557Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-140263523-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263523
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263523
    reference: chr 5
allele count: 1
allele frequency: 8.4088730428348e-6
allele num: 118922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74366A>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95011A>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25502A>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12444A>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80347A>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74366A>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6099A>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1670A>C
  hgvsp: ENSP00000289272.2:p.Asp557Ala
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53453A>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33049A>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54245A>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1670A>C
  hgvsp: ENSP00000386821.1:p.Asp557Ala
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59811A>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95011A>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47200A>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26291A>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59811A>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40223A>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86586A>C
  variant of: http://identifiers.org/hgnc/8668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp557Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-140263524-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263524
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263524
    reference: chr 5
allele count: 2
allele frequency: 1.681718043152885e-5
allele num: 118926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1671C>A
  hgvsp: ENSP00000386821.1:p.Asp557Glu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6100C>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74367C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40224C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33050C>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59812C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53454C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95010C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12445C>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95010C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59812C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1671C>A
  hgvsp: ENSP00000289272.2:p.Asp557Glu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86587C>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26292C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80348C>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74367C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25503C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47201C>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54246C>A
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp557Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS

5-140263531-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263531
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263531
    reference: chr 5
allele count: 12
allele frequency: 1.009676062263357e-4
allele num: 118850
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1678G>C
  hgvsp: ENSP00000289272.2:p.Asp560His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25510G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54253G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95003G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86594G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74374G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80355G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26299G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40231G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12452G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33057G>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1678G>C
  hgvsp: ENSP00000386821.1:p.Asp560His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53461G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74374G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6107G>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59819G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47208G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95003G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59819G>C
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp560His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/5-140263534-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263534
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263534
    reference: chr 5
allele count: 31
allele frequency: 2.613695765812859e-4
allele num: 118606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54256A>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1681A>C
  hgvsp: ENSP00000386821.1:p.Asn561His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26302A>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1681A>C
  hgvsp: ENSP00000289272.2:p.Asn561His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-95000A>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86597A>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59822A>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74377A>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47211A>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74377A>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80358A>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-95000A>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53464A>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33060A>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40234A>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12455A>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59822A>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6110A>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25513A>C
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn561His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

5-140263535-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263535
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263535
    reference: chr 5
allele count: 11
allele frequency: 9.280350966000169e-5
allele num: 118530
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40235A>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6111A>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53465A>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86598A>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80359A>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54257A>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26303A>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59823A>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1682A>T
  hgvsp: ENSP00000289272.2:p.Asn561Ile
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12456A>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59823A>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94999A>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1682A>T
  hgvsp: ENSP00000386821.1:p.Asn561Ile
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47212A>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94999A>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33061A>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25514A>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74378A>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74378A>T
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Asn561Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-140263536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263536
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263536
    reference: chr 5
allele count: 1
allele frequency: 8.443663874628478e-6
allele num: 118432
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74379C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6112C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94998C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40236C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1683C>T
  hgvsp: ENST00000289272.2:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33062C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59824C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53466C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26304C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74379C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59824C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25515C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1683C>T
  hgvsp: ENST00000409494.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54258C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86599C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80360C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94998C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12457C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47213C>T
  variant of: http://identifiers.org/hgnc/8673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn561Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-140263537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263537
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263537
    reference: chr 5
allele count: 1
allele frequency: 8.442238206193226e-6
allele num: 118452
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1684G>T
  hgvsp: ENSP00000289272.2:p.Ala562Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59825G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53467G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86600G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94997G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1684G>T
  hgvsp: ENSP00000386821.1:p.Ala562Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80361G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12458G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40237G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94997G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6113G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54259G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26305G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74380G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47214G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33063G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25516G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74380G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59825G>T
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala562Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

5-140263541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263541
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263541
    reference: chr 5
allele count: 1
allele frequency: 8.444234276835777e-6
allele num: 118424
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12462C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59829C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33067C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86604C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94993C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1688C>T
  hgvsp: ENSP00000386821.1:p.Pro563Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6117C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25520C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94993C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74384C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1688C>T
  hgvsp: ENSP00000289272.2:p.Pro563Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54263C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47218C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74384C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59829C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53471C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26309C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40241C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80365C>T
  variant of: http://identifiers.org/hgnc/8669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro563Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

5-140263544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263544
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263544
    reference: chr 5
allele count: 1
allele frequency: 8.452656669991378e-6
allele num: 118306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59832C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94990C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80368C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25523C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94990C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26312C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12465C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59832C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1691C>T
  hgvsp: ENSP00000289272.2:p.Ala564Val
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33070C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74387C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53474C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40244C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54266C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86607C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47221C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6120C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1691C>T
  hgvsp: ENSP00000386821.1:p.Ala564Val
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74387C>T
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala564Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-140263550-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263550
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263550
    reference: chr 5
allele count: 1
allele frequency: 8.457660949287865e-6
allele num: 118236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12471T>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26318T>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74393T>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6126T>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80374T>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1697T>A
  hgvsp: ENSP00000386821.1:p.Leu566Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86613T>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1697T>A
  hgvsp: ENSP00000289272.2:p.Leu566Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74393T>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94984T>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40250T>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94984T>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25529T>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54272T>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33076T>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59838T>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47227T>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59838T>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53480T>A
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu566Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-140263553-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263553
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263553
    reference: chr 5
allele count: 2
allele frequency: 1.69187561330491e-5
allele num: 118212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94981C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94981C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1700C>G
  hgvsp: ENSP00000289272.2:p.Thr567Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26321C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74396C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59841C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86616C>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12474C>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40253C>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59841C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53483C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25532C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33079C>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1700C>G
  hgvsp: ENSP00000386821.1:p.Thr567Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47230C>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54275C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80377C>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74396C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6129C>G
  variant of: http://identifiers.org/hgnc/8666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr567Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-140263556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263556
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263556
    reference: chr 5
allele count: 1
allele frequency: 8.463530646444471e-6
allele num: 118154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54278C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53486C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94978C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25535C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40256C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74399C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94978C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1703C>T
  hgvsp: ENSP00000289272.2:p.Pro568Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12477C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74399C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86619C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1703C>T
  hgvsp: ENSP00000386821.1:p.Pro568Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80380C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59844C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26324C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59844C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47233C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6132C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33082C>T
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro568Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-140263557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263557
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263557
    reference: chr 5
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1704C>G
  hgvsp: ENST00000409494.1:c.1704C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40257C>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86620C>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53487C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6133C>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26325C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94977C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25536C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94977C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74400C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59845C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54279C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1704C>G
  hgvsp: ENST00000289272.2:c.1704C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74400C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47234C>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33083C>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12478C>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80381C>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59845C>G
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro568Pro
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

5-140263558-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263558
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263558
    reference: chr 5
allele count: 1
allele frequency: 8.462957634434082e-6
allele num: 118162
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74401G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74401G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25537G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26326G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59846G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59846G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1705G>C
  hgvsp: ENSP00000386821.1:p.Gly569Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94976G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1705G>C
  hgvsp: ENSP00000289272.2:p.Gly569Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12479G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33084G>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47235G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86621G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94976G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6134G>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40258G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53488G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54280G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80382G>C
  variant of: http://identifiers.org/hgnc/8669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly569Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-140263559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263559
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263559
    reference: chr 5
allele count: 1
allele frequency: 8.458662516282926e-6
allele num: 118222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40259G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94975G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1706G>A
  hgvsp: ENSP00000386821.1:p.Gly569Glu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33085G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59847G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6135G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53489G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54281G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86622G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74402G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47236G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12480G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1706G>A
  hgvsp: ENSP00000289272.2:p.Gly569Glu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25538G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26327G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80383G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74402G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94975G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59847G>A
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly569Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

5-140263566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263566
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263566
    reference: chr 5
allele count: 2
allele frequency: 1.691675266015936e-5
allele num: 118226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1713C>T
  hgvsp: ENST00000289272.2:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80390C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86629C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33092C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40266C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6142C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1713C>T
  hgvsp: ENST00000409494.1:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53496C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94968C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26334C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12487C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25545C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74409C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74409C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54288C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47243C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59854C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59854C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94968C>T
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly571Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

5-140263570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263570
    reference: chr 5
allele count: 1
allele frequency: 8.454657670910904e-6
allele num: 118278
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47247G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94964G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80394G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6146G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1717G>A
  hgvsp: ENSP00000289272.2:p.Ala573Thr
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53500G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40270G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74413G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86633G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54292G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1717G>A
  hgvsp: ENSP00000386821.1:p.Ala573Thr
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26338G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25549G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33096G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74413G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94964G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59858G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59858G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12491G>A
  variant of: http://identifiers.org/hgnc/8665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala573Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

5-140263572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263572
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263572
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 118348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25551G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47249G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74415G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94962G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26340G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40272G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86635G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54294G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12493G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33098G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6148G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59860G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59860G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1719G>A
  hgvsp: ENST00000409494.1:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74415G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1719G>A
  hgvsp: ENST00000289272.2:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80396G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94962G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53502G>A
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala573Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

5-140263588-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263588
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263588
    reference: chr 5
allele count: 3
allele frequency: 2.525592672413793e-5
allele num: 118784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59876G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74431G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59876G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40288G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86651G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94946G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12509G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6164G>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54310G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25567G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1735G>C
  hgvsp: ENSP00000386821.1:p.Glu579Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53518G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26356G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1735G>C
  hgvsp: ENSP00000289272.2:p.Glu579Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94946G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74431G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80412G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47265G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33114G>C
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu579Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-140263591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263591
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263591
    reference: chr 5
allele count: 1
allele frequency: 8.411136344520145e-6
allele num: 118890
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40291C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80415C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47268C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1738C>T
  hgvsp: ENST00000409494.1:c.1738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12512C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94943C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94943C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74434C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26359C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74434C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86654C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1738C>T
  hgvsp: ENST00000289272.2:c.1738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59879C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54313C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59879C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33117C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6167C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53521C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25570C>T
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu580Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-140263598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263598
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263598
    reference: chr 5
allele count: 9
allele frequency: 7.557817302363077e-5
allele num: 119082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80422C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47275C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59886C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59886C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33124C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53528C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25577C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1745C>T
  hgvsp: ENSP00000386821.1:p.Pro582Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74441C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1745C>T
  hgvsp: ENSP00000289272.2:p.Pro582Leu
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12519C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54320C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86661C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40298C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74441C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26366C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94936C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6174C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94936C>T
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Pro582Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

5-140263601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263601
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263601
    reference: chr 5
allele count: 6
allele frequency: 5.034317262673894e-5
allele num: 119182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47278G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74444G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26369G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6177G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1748G>A
  hgvsp: ENSP00000289272.2:p.Arg583Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59889G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40301G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1748G>A
  hgvsp: ENSP00000386821.1:p.Arg583Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86664G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33127G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59889G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12522G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54323G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25580G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74444G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94933G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80425G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53531G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94933G>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg583Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

5-140263605-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263605
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263605
    reference: chr 5
allele count: 48
allele frequency: 4.02441478301697e-4
allele num: 119272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26373G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86668G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94929G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40305G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1752G>C
  hgvsp: ENST00000409494.1:c.1752G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80429G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53535G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59893G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12526G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74448G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1752G>C
  hgvsp: ENST00000289272.2:c.1752G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74448G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47282G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25584G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94929G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33131G>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59893G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6181G>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54327G>C
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser584Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-140263620-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263620
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263620
    reference: chr 5
allele count: 1
allele frequency: 8.367220576668843e-6
allele num: 119514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54342C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86683C>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74463C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59908C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94914C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12541C>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80444C>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74463C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25599C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40320C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1767C>A
  hgvsp: ENSP00000386821.1:p.His589Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94914C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47297C>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59908C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53550C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1767C>A
  hgvsp: ENSP00000289272.2:p.His589Gln
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26388C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6196C>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33146C>A
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His589Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

5-140263629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263629
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263629
    reference: chr 5
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1776G>A
  hgvsp: ENST00000289272.2:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1776G>A
  hgvsp: ENST00000409494.1:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59917G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47306G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26397G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86692G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40329G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54351G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53559G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74472G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74472G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12550G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59917G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94905G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80453G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6205G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33155G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25608G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94905G>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala592Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

5-140263629-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263629
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263629
    reference: chr 5
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53559G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74472G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6205G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94905G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40329G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33155G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80453G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74472G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59917G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59917G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26397G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94905G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25608G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86692G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1776G>T
  hgvsp: ENST00000289272.2:c.1776G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54351G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1776G>T
  hgvsp: ENST00000409494.1:c.1776G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47306G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12550G>T
  variant of: http://identifiers.org/hgnc/8665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala592Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

5-140263631-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263631
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263631
    reference: chr 5
allele count: 2
allele frequency: 1.671989165510208e-5
allele num: 119618
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1778A>G
  hgvsp: ENSP00000289272.2:p.Lys593Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25610A>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94903A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40331A>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6207A>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53561A>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47308A>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86694A>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26399A>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33157A>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94903A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59919A>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12552A>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1778A>G
  hgvsp: ENSP00000386821.1:p.Lys593Arg
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74474A>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54353A>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59919A>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74474A>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80455A>G
  variant of: http://identifiers.org/hgnc/8669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys593Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-140263636-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263636
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263636
    reference: chr 5
allele count: 3
allele frequency: 2.50685206230363e-5
allele num: 119672
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6212C>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1783C>A
  hgvsp: ENSP00000386821.1:p.Arg595Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40336C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80460C>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74479C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47313C>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86699C>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1783C>A
  hgvsp: ENSP00000289272.2:p.Arg595Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33162C>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53566C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94898C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94898C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54358C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12557C>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59924C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26404C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59924C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25615C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74479C>A
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg595Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

5-140263637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263637
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263637
    reference: chr 5
allele count: 1
allele frequency: 8.356033892073466e-6
allele num: 119674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40337G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47314G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12558G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94897G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59925G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74480G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6213G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26405G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1784G>A
  hgvsp: ENSP00000386821.1:p.Arg595His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53567G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1784G>A
  hgvsp: ENSP00000289272.2:p.Arg595His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86700G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33163G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59925G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94897G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80461G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25616G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54359G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74480G>A
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg595His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

5-140263638-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263638
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263638
    reference: chr 5
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94896C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12559C>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59926C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74481C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86701C>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74481C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80462C>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6214C>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54360C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1785C>G
  hgvsp: ENST00000289272.2:c.1785C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40338C>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25617C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26406C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47315C>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33164C>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59926C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1785C>G
  hgvsp: ENST00000409494.1:c.1785C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53568C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94896C>G
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg595Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

5-140263640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263640
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263640
    reference: chr 5
allele count: 5
allele frequency: 4.177388630819103e-5
allele num: 119692
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59928C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1787C>T
  hgvsp: ENSP00000289272.2:p.Ala596Val
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25619C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26408C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86703C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40340C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12561C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1787C>T
  hgvsp: ENSP00000386821.1:p.Ala596Val
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53570C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59928C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80464C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54362C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74483C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6216C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33166C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94894C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74483C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94894C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47317C>T
  variant of: http://identifiers.org/hgnc/8673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala596Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-140263641-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263641
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263641
    reference: chr 5
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94893G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59929G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59929G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53571G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6217G>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1788G>C
  hgvsp: ENST00000409494.1:c.1788G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40341G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74484G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33167G>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74484G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80465G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54363G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26409G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12562G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1788G>C
  hgvsp: ENST00000289272.2:c.1788G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47318G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86704G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94893G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25620G>C
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala596Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

5-140263645-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263645
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263645
    reference: chr 5
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74488G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6221G>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26413G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33171G>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74488G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86708G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40345G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53575G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59933G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1792G>C
  hgvsp: ENSP00000386821.1:p.Asp598His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94889G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54367G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94889G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1792G>C
  hgvsp: ENSP00000289272.2:p.Asp598His
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80469G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47322G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59933G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25624G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12566G>C
  variant of: http://identifiers.org/hgnc/8665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp598His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-140263649-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263649
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263649
    reference: chr 5
allele count: 321
allele frequency: 2.679913174152613e-3
allele num: 119780
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47326C>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25628C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74492C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80473C>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1796C>A
  hgvsp: ENSP00000289272.2:p.Ala599Asp
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59937C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86712C>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94885C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59937C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12570C>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33175C>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6225C>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26417C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94885C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53579C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40349C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54371C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1796C>A
  hgvsp: ENSP00000386821.1:p.Ala599Asp
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74492C>A
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ala599Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

5-140263650-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263650
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263650
    reference: chr 5
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1797C>G
  hgvsp: ENST00000409494.1:c.1797C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94884C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94884C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26418C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1797C>G
  hgvsp: ENST00000289272.2:c.1797C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86713C>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33176C>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74493C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53580C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6226C>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80474C>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25629C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47327C>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54372C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74493C>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59938C>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12571C>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40350C>G
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59938C>G
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala599Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

5-140263650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263650
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263650
    reference: chr 5
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54372C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59938C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6226C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80474C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74493C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86713C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1797C>T
  hgvsp: ENST00000409494.1:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94884C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53580C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25629C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26418C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1797C>T
  hgvsp: ENST00000289272.2:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40350C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94884C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33176C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47327C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74493C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59938C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12571C>T
  variant of: http://identifiers.org/hgnc/8665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala599Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-140263657-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263657
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263657
    reference: chr 5
allele count: 10
allele frequency: 8.344041519950603e-5
allele num: 119846
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53587G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86720G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6233G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74500G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1804G>T
  hgvsp: ENSP00000289272.2:p.Gly602Cys
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59945G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26425G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54379G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74500G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80481G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1804G>T
  hgvsp: ENSP00000386821.1:p.Gly602Cys
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94877G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94877G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40357G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33183G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47334G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59945G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12578G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25636G>T
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly602Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

5-140263668-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263668
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263668
    reference: chr 5
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6244G>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25647G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59956G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94866G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12589G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1815G>C
  hgvsp: ENST00000409494.1:c.1815G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47345G>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1815G>C
  hgvsp: ENST00000289272.2:c.1815G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54390G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86731G>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59956G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74511G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40368G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94866G>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80492G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33194G>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26436G>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53598G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74511G>C
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala605Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-140263668-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263668
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263668
    reference: chr 5
allele count: 9
allele frequency: 7.506881307865544e-5
allele num: 119890
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86731G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25647G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1815G>T
  hgvsp: ENST00000289272.2:c.1815G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54390G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74511G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1815G>T
  hgvsp: ENST00000409494.1:c.1815G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94866G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59956G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40368G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47345G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74511G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59956G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6244G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12589G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80492G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53598G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26436G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94866G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33194G>T
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala605Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

5-140263672-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263672
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263671
    reference: chr 5
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74518delT
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47352delT
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12596delT
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59963delT
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94859delT
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33201delT
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86738delT
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53605delT
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26443delT
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25654delT
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40375delT
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74518delT
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1822delT
  hgvsp: ENSP00000386821.1:p.Ser608ArgfsTer44
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1822delT
  hgvsp: ENSP00000289272.2:p.Ser608ArgfsTer44
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54397delT
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6251delT
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80499delT
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94859delT
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59963delT
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser608ArgfsTer44
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-140263678-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263678
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263678
    reference: chr 5
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80502T>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47355T>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74521T>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12599T>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94856T>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59966T>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94856T>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74521T>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25657T>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40378T>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6254T>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1825T>A
  hgvsp: ENSP00000386821.1:p.Tyr609Asn
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1825T>A
  hgvsp: ENSP00000289272.2:p.Tyr609Asn
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53608T>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86741T>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26446T>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59966T>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33204T>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54400T>A
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr609Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-140263681-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263681
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263681
    reference: chr 5
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59969G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94853G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1828G>T
  hgvsp: ENSP00000289272.2:p.Glu610Ter
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53611G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86744G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47358G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74524G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25660G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1828G>T
  hgvsp: ENSP00000386821.1:p.Glu610Ter
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94853G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26449G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59969G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80505G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54403G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6257G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33207G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12602G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40381G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74524G>T
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu610Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

5-140263686-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263686
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263686
    reference: chr 5
allele count: 2
allele frequency: 1.671011296036361e-5
allele num: 119688
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25665G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26454G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80510G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74529G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40386G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59974G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1833G>T
  hgvsp: ENSP00000386821.1:p.Leu611Phe
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86749G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59974G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6262G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1833G>T
  hgvsp: ENSP00000289272.2:p.Leu611Phe
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74529G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12607G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94848G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94848G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53616G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33212G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47363G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54408G>T
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu611Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

5-140263693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263693
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263693
    reference: chr 5
allele count: 3
allele frequency: 2.513194269917064e-5
allele num: 119370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6269G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54415G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40393G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53623G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25672G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1840G>A
  hgvsp: ENSP00000289272.2:p.Ala614Thr
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94841G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86756G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80517G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1840G>A
  hgvsp: ENSP00000386821.1:p.Ala614Thr
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59981G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47370G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26461G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74536G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59981G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74536G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94841G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12614G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33219G>A
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala614Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-140263698-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263698
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263698
    reference: chr 5
allele count: 1
allele frequency: 8.374227477515199e-6
allele num: 119414
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74541G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1845G>T
  hgvsp: ENST00000409494.1:c.1845G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1845G>T
  hgvsp: ENST00000289272.2:c.1845G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26466G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86761G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59986G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12619G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47375G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6274G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54420G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80522G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94836G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74541G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53628G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25677G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40398G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59986G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94836G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33224G>T
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala615Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-140263700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263700
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263700
    reference: chr 5
allele count: 1
allele frequency: 8.379279717115517e-6
allele num: 119342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54422T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12621T>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6276T>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1847T>C
  hgvsp: ENSP00000289272.2:p.Val616Ala
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26468T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47377T>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80524T>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40400T>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1847T>C
  hgvsp: ENSP00000386821.1:p.Val616Ala
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33226T>C
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74543T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94834T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53630T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94834T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86763T>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25679T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59988T>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74543T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59988T>C
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val616Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-140263702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263702
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263702
    reference: chr 5
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1849G>A
  hgvsp: ENSP00000289272.2:p.Gly617Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86765G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1849G>A
  hgvsp: ENSP00000386821.1:p.Gly617Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59990G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40402G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74545G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94832G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94832G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47379G>A
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54424G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25681G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80526G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6278G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26470G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12623G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74545G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33228G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53632G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59990G>A
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly617Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

5-140263704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263704
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263704
    reference: chr 5
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53634C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47381C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1851C>T
  hgvsp: ENST00000289272.2:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94830C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6280C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74547C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54426C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26472C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25683C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12625C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40404C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1851C>T
  hgvsp: ENST00000409494.1:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74547C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80528C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33230C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94830C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59992C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59992C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86767C>T
  variant of: http://identifiers.org/hgnc/8668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly617Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

5-140263705-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140263705
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140263705
    reference: chr 5
allele count: 1
allele frequency: 8.37058242512514e-6
allele num: 119466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2394+53635G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2385+74548G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2394+80529G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2385+74548G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.1852G>T
  hgvsp: ENSP00000386821.1:p.Ala618Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.1852G>T
  hgvsp: ENSP00000289272.2:p.Ala618Ser
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2352+59993G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2355+47382G>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2352+59993G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1599+26473G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2391+12626G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2388+25684G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-94829G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2388+86768G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-94829G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2394+40405G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2394+33231G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1602+54427G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2367+6281G>T
  variant of: http://identifiers.org/hgnc/8666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala618Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

GenotypeDepth
all individuals: 306
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8686
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30445
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13784
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44249
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.01010101010101e-4
allele num: 9900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
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: 1.527557130636686e-5
allele num: 65464
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.778e0

DP
type: SiteQuality
SIO_000300: 1.804987e6

FS
type: SiteQuality
SIO_000300: 9.585000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -9.138e0

MQ
type: SiteQuality
SIO_000300: 4.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeDepth
all individuals: 624
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13784
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2342
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30445
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44249
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.138e0

FS
type: SiteQuality
SIO_000300: 9.585000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.778e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 4.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 1.804987e6

GenotypeDepth
all individuals: 8684
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2340
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 607
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variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30406
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13775
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 583
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
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variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.011940902651285e-4
allele num: 9882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.743e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.43e-1

FS
type: SiteQuality
SIO_000300: 2.422e0

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 5.765e1

DP
type: SiteQuality
SIO_000300: 1.802783e6

GenotypeDepth
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 608
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variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 381
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variant carriers: 0

GenotypeDepth
all individuals: 8711
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variant carriers: 0

GenotypeDepth
all individuals: 236
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variant carriers: 0

GenotypeDepth
all individuals: 256
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variant carriers: 0

GenotypeDepth
all individuals: 219
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variant carriers: 0

GenotypeDepth
all individuals: 30403
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variant carriers: 0

GenotypeDepth
all individuals: 238
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variant carriers: 0

GenotypeDepth
all individuals: 134
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variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
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variant carriers: 0

GenotypeDepth
all individuals: 156
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variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
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variant carriers: 0

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

GenotypeQuality
all individuals: 44263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 1.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.905e0

VQSLOD
type: SiteQuality
SIO_000300: -3.506e0

MQ
type: SiteQuality
SIO_000300: 5.679e1

DP
type: SiteQuality
SIO_000300: 1.802722e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 2.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 258
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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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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

MQ
type: SiteQuality
SIO_000300: 5.644e1

DP
type: SiteQuality
SIO_000300: 1.80256e6

VQSLOD
type: SiteQuality
SIO_000300: -2.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.281e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.98e0

GenotypeDepth
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bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 2333
bin: 3.75e1
variant carriers: 2

GenotypeDepth
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bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 232
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variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 154
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 344
allele frequency: 5.262674785056451e-3
allele num: 65366
num of homozygotes: 0

South Asian
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allele count: 24
allele frequency: 1.457548888618972e-3
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
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Latino
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allele count: 10
allele frequency: 8.712319219376198e-4
allele num: 11478
num of homozygotes: 0

European (Finnish)
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allele count: 23
allele frequency: 3.486961795027289e-3
allele num: 6596
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.121076233183856e-3
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num of homozygotes: 0

African
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allele frequency: 9.114847073121329e-4
allele num: 9874
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -7.61e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

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

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

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

FS
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SIO_000300: 9.16e-1

QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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SIO_000300: 5.711e1

ClippingRankSum
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ReadPosRankSum
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SIO_000300: 2.68e0

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65368
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

QD
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SIO_000300: 1.617e1

MQ
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SIO_000300: 5.852e1

ClippingRankSum
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SIO_000300: 7.65e-1

InbreedingCoeff
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FS
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SIO_000300: 4.962e0

BaseQRankSum
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SIO_000300: 1.55e-1

MQRankSum
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SIO_000300: 1.65e0

VQSLOD
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SIO_000300: 1.81e0

ReadPosRankSum
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SIO_000300: 7.81e-1

DP
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SIO_000300: 1.779626e6

GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.183431952662722e-4
allele num: 8450
num of homozygotes: 0

South Asian
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allele count: 0
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65334
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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MQ
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MQRankSum
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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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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South Asian
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FS
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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SIO_000300: 1.777982e6

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.075334143377886e-5
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African
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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Other
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Latino
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East Asian
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65210
num of homozygotes: 0

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

East Asian
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allele num: 8428
num of homozygotes: 0

South Asian
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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DP
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FS
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SIO_000300: 8.68e-1

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

Other
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Latino
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allele frequency: 8.718395815170009e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 65212
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South Asian
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East Asian
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African
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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MQRankSum
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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num of homozygotes: 0

East Asian
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African
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allele frequency: 1.013993104846887e-3
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European (Finnish)
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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MQ
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FS
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 1.024380249948781e-4
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num of homozygotes: 0

Other
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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

European (Finnish)
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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: 1.823043266893534e-3
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.676e1

QD
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SIO_000300: 1.324e1

DP
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SIO_000300: 1.770361e6

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

Latino
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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SIO_000300: 1.53e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540072691431036e-5
allele num: 64932
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ClippingRankSum
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FS
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SIO_000300: 6.519e0

DP
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QD
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VQSLOD
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SIO_000300: -1.327e0

MQ
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InbreedingCoeff
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SIO_000300: 7.0e-4

BaseQRankSum
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SIO_000300: 2.98e0

ReadPosRankSum
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SIO_000300: -3.11e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.53955106690889e-5
allele num: 64954
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East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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DP
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

African
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num of homozygotes: 0

Other
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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: 64930
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 6.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.760488e6

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.542924149848794e-5
allele num: 64812
num of homozygotes: 0

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

DP
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SIO_000300: 1.759402e6

QD
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MQ
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 2.380952380952381e-4
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.46e0

QD
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ClippingRankSum
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SIO_000300: -1.79e-1

ReadPosRankSum
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DP
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MQ
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SIO_000300: 5.801e1

BaseQRankSum
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MQRankSum
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SIO_000300: 5.28e-1

InbreedingCoeff
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SIO_000300: 4.2e-3

VQSLOD
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SIO_000300: -1.817e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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Other
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 64738
num of homozygotes: 0

Other
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MQRankSum
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MQ
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
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allele num: 64750
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Other
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South Asian
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African
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

East Asian
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DP
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QD
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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Other
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African
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East Asian
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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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FS
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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Other
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African
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European (Non-Finnish)
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QD
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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QD
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DP
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MQRankSum
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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VQSLOD
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FS
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InbreedingCoeff
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QD
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MQ
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DP
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65232
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.011326860841424e-4
allele num: 9888
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

FS
type: SiteQuality
SIO_000300: 2.589e0

MQ
type: SiteQuality
SIO_000300: 5.679e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.81e-2

DP
type: SiteQuality
SIO_000300: 1.771526e6

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.425e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65372
num of homozygotes: 0

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

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

African
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allele count: 8
allele frequency: 8.062890546260835e-4
allele num: 9922
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16416
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

BaseQRankSum
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SIO_000300: 1.42e0

ClippingRankSum
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SIO_000300: 6.0e-2

ReadPosRankSum
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SIO_000300: 8.070000000000001e-1

QD
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SIO_000300: 1.504e1

FS
type: SiteQuality
SIO_000300: 1.101e0

MQRankSum
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.238e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.774646e6

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7461
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.584912581000123e-5
allele num: 65432
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.617344268016053e-4
allele num: 11462
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
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SIO_000300: 7.13e-1

MQ
type: SiteQuality
SIO_000300: 5.851e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

FS
type: SiteQuality
SIO_000300: 4.972e0

VQSLOD
type: SiteQuality
SIO_000300: -4.883e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 1.776325e6

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeDepth
all individuals: 195
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 198
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 90
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variant carriers: 1

GenotypeDepth
all individuals: 128
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 48

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7478
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.328915625858857e-4
allele num: 65494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
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SIO_000300: 5.865e1

QD
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BaseQRankSum
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SIO_000300: 1.43e-1

DP
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

VQSLOD
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SIO_000300: 8.98e-1

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -5.49e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.369e0

FS
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
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MQ
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 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: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
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East Asian
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African
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European (Non-Finnish)
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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African
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European (Non-Finnish)
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South Asian
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QD
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MQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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QD
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FS
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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East Asian
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VQSLOD
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ClippingRankSum
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DP
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QD
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FS
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MQ
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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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Latino
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European (Finnish)
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African
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FS
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DP
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Latino
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VQSLOD
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MQRankSum
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QD
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FS
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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FS
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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VQSLOD
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ClippingRankSum
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DP
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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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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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FS
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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QD
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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Latino
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QD
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ReadPosRankSum
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FS
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VQSLOD
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQ
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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South Asian
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 3.041732570872369e-5
allele num: 65752
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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Other
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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Latino
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Other
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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South Asian
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Other
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

BaseQRankSum
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SIO_000300: -1.464e0

QD
type: SiteQuality
SIO_000300: 1.071e1

MQ
type: SiteQuality
SIO_000300: 5.873e1

FS
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 1.765483e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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Other
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FS
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SIO_000300: 1.761e0

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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SIO_000300: 1.765704e6

VQSLOD
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ReadPosRankSum
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SIO_000300: -1.249e0

MQ
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SIO_000300: 5.975e1

ClippingRankSum
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SIO_000300: 1.56e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

Other
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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
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num of homozygotes: 0

African
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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

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

European (Non-Finnish)
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allele count: 1
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allele num: 65570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
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SIO_000300: 1.764526e6

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
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SIO_000300: 2.184e0

ClippingRankSum
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SIO_000300: -1.897e0

InbreedingCoeff
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SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.188e1

VQSLOD
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SIO_000300: -5.797e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
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num of homozygotes: 0

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

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

European (Finnish)
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VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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DP
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FS
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SIO_000300: 5.174e0

ReadPosRankSum
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SIO_000300: 8.04e-1