5-140347774-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347774
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347774
    reference: chr 5
allele count: 8
allele frequency: 6.608730132505039e-5
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10760T>G
  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.1603-10760T>G
  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.2389-10760T>G
  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.2389-10760T>G
  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.2353-10760T>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1423T>G
  hgvsp: ENSP00000289269.5:p.Ser475Ala
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10760T>G
  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.2368-10760T>G
  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.2392-10760T>G
  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.2386-10760T>G
  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.2386-10760T>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.2395-10760T>G
  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.2395-10760T>G
  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.2356-10760T>G
  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.2353-10760T>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10760T>G
  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.2395-10760T>G
  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.2395-10760T>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.1600-10760T>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.1603-10760T>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10760T>G
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser475Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-140347775-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347775
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347775
    reference: chr 5
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10759C>A
  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.2395-10759C>A
  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.2386-10759C>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.2395-10759C>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.1603-10759C>A
  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.2368-10759C>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.1603-10759C>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.1600-10759C>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.2389-10759C>A
  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.2353-10759C>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.2386-10759C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1424C>A
  hgvsp: ENSP00000289269.5:p.Ser475Tyr
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10759C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10759C>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10759C>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.2395-10759C>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.2389-10759C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10759C>A
  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.2395-10759C>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.2392-10759C>A
  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.2356-10759C>A
  variant of: http://identifiers.org/hgnc/8673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser475Tyr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

5-140347777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347777
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347777
    reference: chr 5
allele count: 3
allele frequency: 2.478191911181602e-5
allele num: 121056
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10757A>G
  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.1603-10757A>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.2356-10757A>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.2395-10757A>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1426A>G
  hgvsp: ENSP00000289269.5:p.Ile476Val
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10757A>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.1603-10757A>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.2392-10757A>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.2395-10757A>G
  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.2395-10757A>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10757A>G
  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.2389-10757A>G
  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.2395-10757A>G
  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.2386-10757A>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10757A>G
  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.2368-10757A>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10757A>G
  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.2353-10757A>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.2389-10757A>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10757A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10757A>G
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile476Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

5-140347784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347784
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347784
    reference: chr 5
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1433T>C
  hgvsp: ENSP00000289269.5:p.Ile478Thr
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10750T>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.2395-10750T>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.2353-10750T>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.1600-10750T>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.1603-10750T>C
  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.2395-10750T>C
  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.2386-10750T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10750T>C
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10750T>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.2356-10750T>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.2389-10750T>C
  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.2395-10750T>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.2353-10750T>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.2395-10750T>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10750T>C
  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.1603-10750T>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.2368-10750T>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.2389-10750T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10750T>C
  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.2386-10750T>C
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile478Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

5-140347787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347787
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347787
    reference: chr 5
allele count: 9
allele frequency: 7.437770652209844e-5
allele num: 121004
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10747A>G
  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.2386-10747A>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.1603-10747A>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.2368-10747A>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10747A>G
  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.2353-10747A>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.2389-10747A>G
  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.2389-10747A>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.2392-10747A>G
  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.2395-10747A>G
  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.2395-10747A>G
  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.2395-10747A>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.1600-10747A>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1436A>G
  hgvsp: ENSP00000289269.5:p.Gln479Arg
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2395-10747A>G
  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.2353-10747A>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.2386-10747A>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.1603-10747A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10747A>G
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10747A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10747A>G
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln479Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

5-140347791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347791
    reference: chr 5
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2395-10743G>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.2353-10743G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1440G>A
  hgvsp: ENST00000289269.5:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10743G>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.1600-10743G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10743G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2395-10743G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10743G>A
  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.2395-10743G>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.2389-10743G>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.2386-10743G>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.2395-10743G>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.1603-10743G>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.2389-10743G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10743G>A
  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.2368-10743G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10743G>A
  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.2395-10743G>A
  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.2386-10743G>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.2353-10743G>A
  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.1603-10743G>A
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu480Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/5-140347794-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347794
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347794
    reference: chr 5
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10740C>A
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10740C>A
  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.2392-10740C>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1443C>A
  hgvsp: ENSP00000289269.5:p.Asn481Lys
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10740C>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.2386-10740C>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.2389-10740C>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.2356-10740C>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.2395-10740C>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.2395-10740C>A
  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.2353-10740C>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.2389-10740C>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10740C>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.2395-10740C>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.2368-10740C>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.2395-10740C>A
  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.1600-10740C>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.2395-10740C>A
  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.1603-10740C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10740C>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-10740C>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn481Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

5-140347795-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347795
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347795
    reference: chr 5
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10739A>T
  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.2395-10739A>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.1603-10739A>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.2368-10739A>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10739A>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.2356-10739A>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.2386-10739A>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.2389-10739A>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.2392-10739A>T
  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.1600-10739A>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.2353-10739A>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10739A>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10739A>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10739A>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1444A>T
  hgvsp: ENSP00000289269.5:p.Asn482Tyr
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1603-10739A>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.2395-10739A>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.2395-10739A>T
  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.2395-10739A>T
  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.2389-10739A>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.2395-10739A>T
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn482Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-140347800-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347800
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347800
    reference: chr 5
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
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.2395-10734G>T
  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.2395-10734G>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.2395-10734G>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.2392-10734G>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.2386-10734G>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.1600-10734G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10734G>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10734G>T
  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.2395-10734G>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.2353-10734G>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.1603-10734G>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.2386-10734G>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1449G>T
  hgvsp: ENSP00000289269.5:p.Leu483Phe
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10734G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10734G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10734G>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10734G>T
  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.2389-10734G>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.2356-10734G>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.1603-10734G>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.2389-10734G>T
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu483Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

5-140347807-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347807
    reference: chr 5
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
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.2353-10727G>T
  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.2353-10727G>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.2386-10727G>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.2356-10727G>T
  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.1603-10727G>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.2389-10727G>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.2368-10727G>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.2386-10727G>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.2395-10727G>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.2395-10727G>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10727G>T
  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.2395-10727G>T
  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.1600-10727G>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.2392-10727G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1456G>T
  hgvsp: ENSP00000289269.5:p.Val486Leu
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10727G>T
  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.1603-10727G>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.2395-10727G>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.2395-10727G>T
  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.2389-10727G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10727G>T
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val486Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-140347825-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347825
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347825
    reference: chr 5
allele count: 200
allele frequency: 1.669337606837607e-3
allele num: 119808
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.2389-10709C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10709C>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1474C>A
  hgvsp: ENSP00000289269.5:p.Gln492Lys
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2395-10709C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10709C>A
  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.2353-10709C>A
  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.2395-10709C>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.1603-10709C>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.2392-10709C>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.2395-10709C>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.2395-10709C>A
  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.2356-10709C>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.2386-10709C>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.2395-10709C>A
  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.2368-10709C>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10709C>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.1600-10709C>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.2353-10709C>A
  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.1603-10709C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10709C>A
  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.2386-10709C>A
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln492Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-140347837-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347837
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347837
    reference: chr 5
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10697C>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2389-10697C>A
  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.2395-10697C>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.2386-10697C>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.2389-10697C>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.2368-10697C>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.2395-10697C>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.1603-10697C>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.2392-10697C>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.2395-10697C>A
  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.2395-10697C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10697C>A
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1486C>A
  hgvsp: ENSP00000289269.5:p.Pro496Thr
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10697C>A
  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.1600-10697C>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.2356-10697C>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.2353-10697C>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.2353-10697C>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.2395-10697C>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.1603-10697C>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.2386-10697C>A
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro496Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-140347838-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347838
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347838
    reference: chr 5
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
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.2353-10696C>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.1603-10696C>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.2389-10696C>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.2395-10696C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10696C>A
  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.2395-10696C>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10696C>A
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10696C>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10696C>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10696C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1487C>A
  hgvsp: ENSP00000289269.5:p.Pro496Gln
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10696C>A
  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.2395-10696C>A
  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.2356-10696C>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.2386-10696C>A
  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.2386-10696C>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.2395-10696C>A
  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.1603-10696C>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.2392-10696C>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.2395-10696C>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.2389-10696C>A
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro496Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-140347841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347841
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347841
    reference: chr 5
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10693A>G
  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.2368-10693A>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10693A>G
  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.2395-10693A>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.2389-10693A>G
  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.2395-10693A>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.1600-10693A>G
  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.2353-10693A>G
  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.2356-10693A>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10693A>G
  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.2353-10693A>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.2386-10693A>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.2392-10693A>G
  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.2386-10693A>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10693A>G
  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.2395-10693A>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1490A>G
  hgvsp: ENSP00000289269.5:p.Asp497Gly
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2395-10693A>G
  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.1603-10693A>G
  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.1603-10693A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10693A>G
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp497Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

5-140347842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347842
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347842
    reference: chr 5
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
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.2368-10692T>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10692T>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.2353-10692T>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.2386-10692T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10692T>C
  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.2395-10692T>C
  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.2395-10692T>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.2389-10692T>C
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1491T>C
  hgvsp: ENST00000289269.5:c.1491T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2386-10692T>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.1600-10692T>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.1603-10692T>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.2389-10692T>C
  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.1603-10692T>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.2392-10692T>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10692T>C
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10692T>C
  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.2395-10692T>C
  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.2395-10692T>C
  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.2395-10692T>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.2353-10692T>C
  variant of: http://identifiers.org/hgnc/8671
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp497Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-140347848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347848
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347848
    reference: chr 5
allele count: 5
allele frequency: 4.13352953820208e-5
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10686G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10686G>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.2392-10686G>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.2395-10686G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1497G>A
  hgvsp: ENST00000289269.5:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2395-10686G>A
  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.2395-10686G>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.2353-10686G>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.2389-10686G>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.1600-10686G>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.2395-10686G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10686G>A
  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.2353-10686G>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.1603-10686G>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.2389-10686G>A
  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.2395-10686G>A
  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.2356-10686G>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.2386-10686G>A
  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.1603-10686G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10686G>A
  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.2386-10686G>A
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys499Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

5-140347851-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347851
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347851
    reference: chr 5
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1500G>T
  hgvsp: ENSP00000289269.5:p.Glu500Asp
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10683G>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10683G>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.2395-10683G>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.2395-10683G>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.2389-10683G>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.2389-10683G>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.2395-10683G>T
  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.1600-10683G>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.2353-10683G>T
  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.2386-10683G>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.2395-10683G>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.2395-10683G>T
  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.2353-10683G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10683G>T
  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.1603-10683G>T
  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.1603-10683G>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.2356-10683G>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.2368-10683G>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.2392-10683G>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10683G>T
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu500Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

5-140347854-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347854
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347854
    reference: chr 5
allele count: 21
allele frequency: 1.735852799682587e-4
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-10680T>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.2392-10680T>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.2386-10680T>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.2389-10680T>C
  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.2368-10680T>C
  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.2395-10680T>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.1600-10680T>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.2395-10680T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10680T>C
  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.2395-10680T>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.2395-10680T>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10680T>C
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2386-10680T>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.2353-10680T>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1503T>C
  hgvsp: ENST00000289269.5:c.1503T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1603-10680T>C
  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.2353-10680T>C
  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.2395-10680T>C
  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.2389-10680T>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.2356-10680T>C
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10680T>C
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn501Asn
num of homozygotes: 1
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

5-140347860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347860
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347860
    reference: chr 5
allele count: 4
allele frequency: 3.306331625061994e-5
allele num: 120980
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.2392-10674G>A
  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.2395-10674G>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.2389-10674G>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.1603-10674G>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.2386-10674G>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.2389-10674G>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.2368-10674G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10674G>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.2353-10674G>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.2395-10674G>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.2353-10674G>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.2386-10674G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1509G>A
  hgvsp: ENST00000289269.5:c.1509G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10674G>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.2395-10674G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10674G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10674G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10674G>A
  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.1603-10674G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10674G>A
  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.2395-10674G>A
  variant of: http://identifiers.org/hgnc/8674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu503Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

5-140347861-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347861
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347861
    reference: chr 5
allele count: 17
allele frequency: 1.405237402459992e-4
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2386-10673G>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.2353-10673G>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.2356-10673G>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.2368-10673G>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.2389-10673G>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.2395-10673G>T
  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.2395-10673G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10673G>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10673G>T
  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.1600-10673G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10673G>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1510G>T
  hgvsp: ENSP00000289269.5:p.Val504Leu
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1603-10673G>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.2395-10673G>T
  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.2386-10673G>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.2389-10673G>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10673G>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.2395-10673G>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.1603-10673G>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.2395-10673G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10673G>T
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val504Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-140347872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347872
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347872
    reference: chr 5
allele count: 513
allele frequency: 4.240019836350112e-3
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10662C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10662C>T
  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.2395-10662C>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.2389-10662C>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.2395-10662C>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.1603-10662C>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.2395-10662C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1521C>T
  hgvsp: ENST00000289269.5:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2386-10662C>T
  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.2395-10662C>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.2353-10662C>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.2368-10662C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10662C>T
  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.2386-10662C>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.2389-10662C>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.2353-10662C>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.2392-10662C>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.2356-10662C>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.1603-10662C>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.1600-10662C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10662C>T
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser507Ser
num of homozygotes: 9
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

5-140347873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347873
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347873
    reference: chr 5
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10661C>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1522C>T
  hgvsp: ENSP00000289269.5:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10661C>T
  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.1600-10661C>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.2395-10661C>T
  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.2395-10661C>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.2392-10661C>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.2353-10661C>T
  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.2386-10661C>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.2395-10661C>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.2386-10661C>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.2353-10661C>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.2395-10661C>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.2395-10661C>T
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10661C>T
  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.1603-10661C>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.2389-10661C>T
  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.2368-10661C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10661C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10661C>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.1603-10661C>T
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu508Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-140347880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347880
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347880
    reference: chr 5
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
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.2395-10654A>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.2389-10654A>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10654A>G
  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.2395-10654A>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.2395-10654A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1529A>G
  hgvsp: ENSP00000289269.5:p.Glu510Gly
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10654A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10654A>G
  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.2386-10654A>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.1603-10654A>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.2386-10654A>G
  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.1600-10654A>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.2356-10654A>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.2395-10654A>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.2353-10654A>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10654A>G
  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.2353-10654A>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.2392-10654A>G
  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.1603-10654A>G
  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.2368-10654A>G
  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.2389-10654A>G
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu510Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

5-140347899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347899
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347899
    reference: chr 5
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
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.2389-10635G>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.2353-10635G>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.2386-10635G>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.1603-10635G>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.2392-10635G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1548G>A
  hgvsp: ENST00000289269.5:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10635G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10635G>A
  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.1600-10635G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10635G>A
  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.1603-10635G>A
  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.2395-10635G>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.2386-10635G>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.2353-10635G>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.2368-10635G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10635G>A
  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.2395-10635G>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.2395-10635G>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.2395-10635G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10635G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2395-10635G>A
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu516Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-140347902-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347902
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347902
    reference: chr 5
allele count: 1024
allele frequency: 8.462809917355372e-3
allele num: 121000
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.2353-10632A>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.2395-10632A>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1551A>T
  hgvsp: ENST00000289269.5:c.1551A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2389-10632A>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.2386-10632A>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.2395-10632A>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.2389-10632A>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.2356-10632A>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.2395-10632A>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.2368-10632A>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10632A>T
  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.2353-10632A>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.2386-10632A>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.1603-10632A>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.2395-10632A>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10632A>T
  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.2392-10632A>T
  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.2395-10632A>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.1603-10632A>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10632A>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10632A>T
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro517Pro
num of homozygotes: 11
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-140347907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347907
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347907
    reference: chr 5
allele count: 3
allele frequency: 2.479543763947434e-5
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1556C>T
  hgvsp: ENSP00000289269.5:p.Thr519Ile
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-10627C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10627C>T
  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.2386-10627C>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.2356-10627C>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.1600-10627C>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.2353-10627C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10627C>T
  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.2368-10627C>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.2392-10627C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10627C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10627C>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.2395-10627C>T
  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.2395-10627C>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.2395-10627C>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.1603-10627C>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.2395-10627C>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.2386-10627C>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.2389-10627C>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.2353-10627C>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.2395-10627C>T
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr519Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

5-140347909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347909
    reference: chr 5
allele count: 3
allele frequency: 2.479625741821368e-5
allele num: 120986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-10625T>C
  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.2386-10625T>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.2353-10625T>C
  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.1603-10625T>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.2386-10625T>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.2353-10625T>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10625T>C
  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.2389-10625T>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10625T>C
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10625T>C
  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.2368-10625T>C
  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.2395-10625T>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.1600-10625T>C
  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.2395-10625T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1558T>C
  hgvsp: ENSP00000289269.5:p.Ser520Pro
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10625T>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10625T>C
  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.2389-10625T>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.2395-10625T>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.2395-10625T>C
  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.2395-10625T>C
  variant of: http://identifiers.org/hgnc/8674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser520Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

5-140347914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347914
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347914
    reference: chr 5
allele count: 7
allele frequency: 5.785984691937644e-5
allele num: 120982
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10620T>C
  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.2353-10620T>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.2392-10620T>C
  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.2395-10620T>C
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1563T>C
  hgvsp: ENST00000289269.5:c.1563T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10620T>C
  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.2395-10620T>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.1600-10620T>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.2395-10620T>C
  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.2389-10620T>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.1603-10620T>C
  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.2386-10620T>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.2368-10620T>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.2353-10620T>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.2395-10620T>C
  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.2356-10620T>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.2386-10620T>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.2389-10620T>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.2395-10620T>C
  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.1603-10620T>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10620T>C
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr521Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

5-140347933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347933
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347933
    reference: chr 5
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2395-10601A>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.2395-10601A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10601A>G
  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.1603-10601A>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1582A>G
  hgvsp: ENSP00000289269.5:p.Ser528Gly
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2389-10601A>G
  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.2395-10601A>G
  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.2395-10601A>G
  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.1603-10601A>G
  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.2356-10601A>G
  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.2353-10601A>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.2386-10601A>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.2353-10601A>G
  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.1600-10601A>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10601A>G
  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.2386-10601A>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.2389-10601A>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.2392-10601A>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.2395-10601A>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.2368-10601A>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10601A>G
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser528Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-140347951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347951
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347951
    reference: chr 5
allele count: 4
allele frequency: 3.308026927339188e-5
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10583G>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.1603-10583G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10583G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10583G>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.2389-10583G>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.2368-10583G>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.1600-10583G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1600G>A
  hgvsp: ENSP00000289269.5:p.Val534Ile
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10583G>A
  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.1603-10583G>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.2395-10583G>A
  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.2353-10583G>A
  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.2353-10583G>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.2395-10583G>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.2386-10583G>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.2395-10583G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10583G>A
  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.2392-10583G>A
  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.2356-10583G>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.2386-10583G>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.2389-10583G>A
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val534Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

5-140347959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347959
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347959
    reference: chr 5
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2386-10575C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10575C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10575C>T
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10575C>T
  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.2395-10575C>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.1600-10575C>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.2395-10575C>T
  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.2353-10575C>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.2392-10575C>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.2395-10575C>T
  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.2353-10575C>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.2386-10575C>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.2395-10575C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1608C>T
  hgvsp: ENST00000289269.5:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10575C>T
  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.2368-10575C>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.1603-10575C>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.2389-10575C>T
  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.1603-10575C>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.2395-10575C>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.2389-10575C>T
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser536Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

5-140347963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347963
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347963
    reference: chr 5
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
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.1603-10571G>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.2386-10571G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10571G>A
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1612G>A
  hgvsp: ENSP00000289269.5:p.Asp538Asn
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10571G>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.2389-10571G>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.2395-10571G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10571G>A
  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.2368-10571G>A
  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.2395-10571G>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.2389-10571G>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.2386-10571G>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.2395-10571G>A
  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.1600-10571G>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.1603-10571G>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.2356-10571G>A
  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.2395-10571G>A
  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.2353-10571G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10571G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10571G>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.2395-10571G>A
  variant of: http://identifiers.org/hgnc/8669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp538Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

5-140347970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347970
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347970
    reference: chr 5
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10564A>G
  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.1603-10564A>G
  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.2389-10564A>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1619A>G
  hgvsp: ENSP00000289269.5:p.Glu540Gly
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10564A>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10564A>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.2395-10564A>G
  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.2395-10564A>G
  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.2395-10564A>G
  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.2395-10564A>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.2386-10564A>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.2353-10564A>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.2395-10564A>G
  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.1603-10564A>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10564A>G
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10564A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10564A>G
  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.1600-10564A>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.2389-10564A>G
  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.2353-10564A>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10564A>G
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu540Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-140347979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140347979
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140347979
    reference: chr 5
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10555G>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.2395-10555G>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.2353-10555G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1628G>A
  hgvsp: ENSP00000289269.5:p.Arg543Gln
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10555G>A
  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.2353-10555G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10555G>A
  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.1600-10555G>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.2395-10555G>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.2386-10555G>A
  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.1603-10555G>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10555G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10555G>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.2395-10555G>A
  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.2395-10555G>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.2356-10555G>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.2386-10555G>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.2389-10555G>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.2368-10555G>A
  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.1603-10555G>A
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10555G>A
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg543Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-140348004-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348004
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348004
    reference: chr 5
allele count: 2
allele frequency: 1.654834599281802e-5
allele num: 120858
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10530T>C
  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.2356-10530T>C
  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.2392-10530T>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.2353-10530T>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.2386-10530T>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.2389-10530T>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.2395-10530T>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.2395-10530T>C
  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.2386-10530T>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1653T>C
  hgvsp: ENST00000289269.5:c.1653T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10530T>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.1603-10530T>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.1603-10530T>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.2389-10530T>C
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10530T>C
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10530T>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.2395-10530T>C
  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.2368-10530T>C
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10530T>C
  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.2353-10530T>C
  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.2395-10530T>C
  variant of: http://identifiers.org/hgnc/8675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala551Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

5-140348008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348008
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348008
    reference: chr 5
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
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.2353-10526G>A
  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.1603-10526G>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.2395-10526G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1657G>A
  hgvsp: ENSP00000289269.5:p.Asp553Asn
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2386-10526G>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.2353-10526G>A
  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.2395-10526G>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.2389-10526G>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.2395-10526G>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.2389-10526G>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.1600-10526G>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.2356-10526G>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.2386-10526G>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.2395-10526G>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.2392-10526G>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.2395-10526G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10526G>A
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10526G>A
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10526G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10526G>A
  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.1603-10526G>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp553Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

5-140348011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348011
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348011
    reference: chr 5
allele count: 31
allele frequency: 2.564781414435583e-4
allele num: 120868
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2395-10523A>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.2395-10523A>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.2353-10523A>G
  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.2389-10523A>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.2356-10523A>G
  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.2386-10523A>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.1603-10523A>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.2368-10523A>G
  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.2392-10523A>G
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10523A>G
  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.2395-10523A>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.2395-10523A>G
  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.2353-10523A>G
  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.1600-10523A>G
  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.2389-10523A>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1660A>G
  hgvsp: ENSP00000289269.5:p.Lys554Glu
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10523A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2395-10523A>G
  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.1603-10523A>G
  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.2386-10523A>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10523A>G
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys554Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-140348029-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348029
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348029
    reference: chr 5
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10505A>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.2368-10505A>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.2386-10505A>G
  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.2395-10505A>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.2389-10505A>G
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10505A>G
  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.1600-10505A>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1678A>G
  hgvsp: ENSP00000289269.5:p.Ser560Gly
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10505A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10505A>G
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10505A>G
  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.2389-10505A>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.1603-10505A>G
  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.2395-10505A>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.2392-10505A>G
  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.2356-10505A>G
  variant of: http://identifiers.org/hgnc/8673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10505A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10505A>G
  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.2395-10505A>G
  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.2353-10505A>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.1603-10505A>G
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser560Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

5-140348030-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348030
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348030
    reference: chr 5
allele count: 2
allele frequency: 1.654150263009892e-5
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10504G>C
  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.2389-10504G>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.2356-10504G>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.2386-10504G>C
  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.2392-10504G>C
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10504G>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.2395-10504G>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.2395-10504G>C
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1679G>C
  hgvsp: ENSP00000289269.5:p.Ser560Thr
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10504G>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.1603-10504G>C
  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.1600-10504G>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.1603-10504G>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.2368-10504G>C
  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.2395-10504G>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.2386-10504G>C
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10504G>C
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10504G>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.2353-10504G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10504G>C
  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.2395-10504G>C
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser560Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-140348036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348036
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348036
    reference: chr 5
allele count: 2
allele frequency: 1.653821982601793e-5
allele num: 120932
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10498C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10498C>T
  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.2395-10498C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1685C>T
  hgvsp: ENSP00000289269.5:p.Thr562Ile
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10498C>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.1600-10498C>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.2395-10498C>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.2356-10498C>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.2353-10498C>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.2389-10498C>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.2368-10498C>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.2392-10498C>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.2386-10498C>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.2395-10498C>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.2386-10498C>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.2389-10498C>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.1603-10498C>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.2395-10498C>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.1603-10498C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10498C>T
  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.2395-10498C>T
  variant of: http://identifiers.org/hgnc/8669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr562Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

5-140348041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348041
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348041
    reference: chr 5
allele count: 5
allele frequency: 4.133392854190433e-5
allele num: 120966
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10493A>G
  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.2353-10493A>G
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1690A>G
  hgvsp: ENSP00000289269.5:p.Thr564Ala
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2395-10493A>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.2386-10493A>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.2353-10493A>G
  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.2395-10493A>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.1600-10493A>G
  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.2368-10493A>G
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10493A>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.2389-10493A>G
  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.1603-10493A>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.2395-10493A>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.2389-10493A>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.1603-10493A>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.2395-10493A>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.2356-10493A>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.2395-10493A>G
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10493A>G
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10493A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10493A>G
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr564Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-140348050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348050
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348050
    reference: chr 5
allele count: 2
allele frequency: 1.652592090694254e-5
allele num: 121022
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.2353-10484G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10484G>A
  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.2353-10484G>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.2392-10484G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10484G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1699G>A
  hgvsp: ENSP00000289269.5:p.Val567Ile
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10484G>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.2356-10484G>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.2389-10484G>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.2395-10484G>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.2389-10484G>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.2395-10484G>A
  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.2386-10484G>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.2395-10484G>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.2368-10484G>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.1600-10484G>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.1603-10484G>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.2386-10484G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10484G>A
  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.2395-10484G>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.1603-10484G>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val567Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-140348050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348050
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348050
    reference: chr 5
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
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.2395-10484G>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1699G>T
  hgvsp: ENSP00000289269.5:p.Val567Leu
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10484G>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.2386-10484G>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.2386-10484G>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.1603-10484G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10484G>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000304234
  ensembl transcript: ENST00000307360
  gene symbol: PCDHA10
  hgvsc: ENST00000307360.5:c.2389-10484G>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10484G>T
  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.2356-10484G>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.2395-10484G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10484G>T
  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.2392-10484G>T
  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.1600-10484G>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.2395-10484G>T
  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.2368-10484G>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10484G>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.2389-10484G>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.2395-10484G>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.1603-10484G>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.2395-10484G>T
  variant of: http://identifiers.org/hgnc/8674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val567Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-140348056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348056
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348056
    reference: chr 5
allele count: 12
allele frequency: 9.91375037176564e-5
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2395-10478G>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.1603-10478G>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.2392-10478G>A
  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.2353-10478G>A
  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.1603-10478G>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.2389-10478G>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.2386-10478G>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.1600-10478G>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.2395-10478G>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.2395-10478G>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.2386-10478G>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.2389-10478G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1705G>A
  hgvsp: ENSP00000289269.5:p.Val569Met
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10478G>A
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10478G>A
  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.2356-10478G>A
  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.2395-10478G>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.2368-10478G>A
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10478G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10478G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10478G>A
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val569Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum

5-140348079-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348079
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348079
    reference: chr 5
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10455C>G
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10455C>G
  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.2353-10455C>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.2395-10455C>G
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10455C>G
  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.2353-10455C>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.2389-10455C>G
  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.2395-10455C>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.2395-10455C>G
  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.2395-10455C>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1728C>G
  hgvsp: ENST00000289269.5:c.1728C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2395-10455C>G
  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.2356-10455C>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.1603-10455C>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.2386-10455C>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.2368-10455C>G
  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.2389-10455C>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.1603-10455C>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10455C>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249158
  ensembl protein: ENSP00000381636
  ensembl transcript: ENST00000398640
  gene symbol: PCDHA11
  hgvsc: ENST00000398640.2:c.2392-10455C>G
  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.2386-10455C>G
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala576Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-140348089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348089
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348089
    reference: chr 5
allele count: 7
allele frequency: 5.773767300681305e-5
allele num: 121238
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.2389-10445C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000435300
  ensembl transcript: ENST00000530339
  gene symbol: PCDHA4
  hgvsc: ENST00000530339.1:c.2386-10445C>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.2392-10445C>T
  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.1600-10445C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10445C>T
  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.1603-10445C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10445C>T
  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.2353-10445C>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.2395-10445C>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.2395-10445C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1738C>T
  hgvsp: ENST00000289269.5:c.1738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204967
  ensembl protein: ENSP00000423470
  ensembl transcript: ENST00000512229
  gene symbol: PCDHA4
  hgvsc: ENST00000512229.2:c.2386-10445C>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.1603-10445C>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.2395-10445C>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.2353-10445C>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.2395-10445C>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.2389-10445C>T
  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.2368-10445C>T
  variant of: http://identifiers.org/hgnc/8666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10445C>T
  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.2395-10445C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10445C>T
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu580Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

5-140348091-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348091
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348091
    reference: chr 5
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
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.2389-10443G>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.2395-10443G>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.2353-10443G>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.1600-10443G>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.1603-10443G>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1740G>T
  hgvsp: ENST00000289269.5:c.1740G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10443G>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.2389-10443G>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.2356-10443G>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.2395-10443G>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.2386-10443G>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.2392-10443G>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.2353-10443G>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10443G>T
  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.2395-10443G>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10443G>T
  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.1603-10443G>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.2395-10443G>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.2386-10443G>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.2395-10443G>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10443G>T
  variant of: http://identifiers.org/hgnc/8676
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu580Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-140348111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348111
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348111
    reference: chr 5
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10423C>T
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10423C>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10423C>T
  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.2395-10423C>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.2353-10423C>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.2395-10423C>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.1603-10423C>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.2386-10423C>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.2386-10423C>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.2356-10423C>T
  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.2389-10423C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10423C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2395-10423C>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.2368-10423C>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.2395-10423C>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.2389-10423C>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.2353-10423C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1760C>T
  hgvsp: ENSP00000289269.5:p.Ser587Leu
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2395-10423C>T
  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.1603-10423C>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.2392-10423C>T
  variant of: http://identifiers.org/hgnc/8665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser587Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

5-140348112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348112
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348112
    reference: chr 5
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
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.2389-10422G>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.2389-10422G>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.2395-10422G>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.1600-10422G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10422G>A
  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.2353-10422G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1761G>A
  hgvsp: ENST00000289269.5:c.1761G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000378129
  ensembl transcript: ENST00000394633
  gene symbol: PCDHA1
  hgvsc: ENST00000394633.3:c.1603-10422G>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.2392-10422G>A
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10422G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000433378
  ensembl transcript: ENST00000529310
  gene symbol: PCDHA6
  hgvsc: ENST00000529310.1:c.2395-10422G>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.2353-10422G>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.2368-10422G>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.2386-10422G>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.2356-10422G>A
  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.2395-10422G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10422G>A
  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.2395-10422G>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.2386-10422G>A
  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.1603-10422G>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.2395-10422G>A
  variant of: http://identifiers.org/hgnc/8674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser587Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

5-140348124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348124
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348124
    reference: chr 5
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10410C>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.1600-10410C>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.2395-10410C>T
  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.2353-10410C>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.2395-10410C>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.2389-10410C>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.2395-10410C>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.2386-10410C>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.1603-10410C>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.2368-10410C>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.1603-10410C>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.2386-10410C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10410C>T
  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.2392-10410C>T
  variant of: http://identifiers.org/hgnc/8665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1773C>T
  hgvsp: ENST00000289269.5:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10410C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10410C>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10410C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10410C>T
  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.2389-10410C>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.2395-10410C>T
  variant of: http://identifiers.org/hgnc/8674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe591Phe
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

5-140348127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348127
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348127
    reference: chr 5
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
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.2353-10407G>A
  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.2395-10407G>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.1603-10407G>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.2392-10407G>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.2395-10407G>A
  variant of: http://identifiers.org/hgnc/8675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10407G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204962
  ensembl protein: ENSP00000434655
  ensembl transcript: ENST00000531613
  gene symbol: PCDHA8
  hgvsc: ENST00000531613.1:c.2395-10407G>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10407G>A
  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.2386-10407G>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.1600-10407G>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.2353-10407G>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.2395-10407G>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.2395-10407G>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.2389-10407G>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1776G>A
  hgvsp: ENST00000289269.5:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10407G>A
  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.2386-10407G>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.2356-10407G>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.2389-10407G>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.1603-10407G>A
  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.2368-10407G>A
  variant of: http://identifiers.org/hgnc/8666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu592Glu
num of homozygotes: 1
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

5-140348138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348138
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348138
    reference: chr 5
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10396G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10396G>A
  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.2353-10396G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10396G>A
  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.2356-10396G>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.2386-10396G>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1787G>A
  hgvsp: ENSP00000289269.5:p.Arg596Gln
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10396G>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.1600-10396G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10396G>A
  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.2395-10396G>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.2386-10396G>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.2392-10396G>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.2389-10396G>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.2395-10396G>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.2353-10396G>A
  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.2395-10396G>A
  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.2395-10396G>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.2395-10396G>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.1603-10396G>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.1603-10396G>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg596Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-140348145-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348145
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348145
    reference: chr 5
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
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.2392-10389C>A
  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.2353-10389C>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.2395-10389C>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.2395-10389C>A
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1794C>A
  hgvsp: ENST00000289269.5:c.1794C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204961
  ensembl protein: ENSP00000436042
  ensembl transcript: ENST00000532602
  gene symbol: PCDHA9
  hgvsc: ENST00000532602.1:c.2395-10389C>A
  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.2395-10389C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10389C>A
  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.2389-10389C>A
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10389C>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10389C>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.2395-10389C>A
  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.2353-10389C>A
  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.1603-10389C>A
  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.2356-10389C>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.2386-10389C>A
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10389C>A
  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.2386-10389C>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.2389-10389C>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.2368-10389C>A
  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.1603-10389C>A
  variant of: http://identifiers.org/hgnc/8663
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala598Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-140348149-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348149
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348149
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
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.2386-10385G>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.2353-10385G>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.1600-10385G>C
  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.2386-10385G>C
  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.1603-10385G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1798G>C
  hgvsp: ENSP00000289269.5:p.Ala600Pro
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255408
  ensembl protein: ENSP00000429808
  ensembl transcript: ENST00000522353
  gene symbol: PCDHA3
  hgvsc: ENST00000522353.2:c.2395-10385G>C
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10385G>C
  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.2395-10385G>C
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10385G>C
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204969
  ensembl protein: ENSP00000431748
  ensembl transcript: ENST00000526136
  gene symbol: PCDHA2
  hgvsc: ENST00000526136.1:c.2389-10385G>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.1603-10385G>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.2395-10385G>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.2389-10385G>C
  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.2395-10385G>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.2353-10385G>C
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10385G>C
  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.2395-10385G>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.2356-10385G>C
  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.2368-10385G>C
  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.2392-10385G>C
  variant of: http://identifiers.org/hgnc/8665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala600Pro
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-140348150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348150
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348150
    reference: chr 5
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
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.2386-10384C>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.1603-10384C>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.2395-10384C>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.1600-10384C>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.2395-10384C>T
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10384C>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1799C>T
  hgvsp: ENSP00000289269.5:p.Ala600Val
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10384C>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.2395-10384C>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.2353-10384C>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.2392-10384C>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.2353-10384C>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.2389-10384C>T
  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.2386-10384C>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.2395-10384C>T
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10384C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10384C>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.2395-10384C>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.1603-10384C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10384C>T
  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.2389-10384C>T
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala600Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

5-140348160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348160
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348160
    reference: chr 5
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1809G>A
  hgvsp: ENST00000289269.5:c.1809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081842
  ensembl protein: ENSP00000434113
  ensembl transcript: ENST00000527624
  gene symbol: PCDHA6
  hgvsc: ENST00000527624.1:c.1603-10374G>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.2395-10374G>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.2386-10374G>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.2395-10374G>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.2395-10374G>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.2353-10374G>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.1603-10374G>A
  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.2368-10374G>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.2392-10374G>A
  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.2386-10374G>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.2395-10374G>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.1600-10374G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10374G>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10374G>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10374G>A
  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.2356-10374G>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.2389-10374G>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.2395-10374G>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.2389-10374G>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10374G>A
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu603Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

5-140348165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348165
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348165
    reference: chr 5
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
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.2395-10369C>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.2386-10369C>T
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10369C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10369C>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.2368-10369C>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.2353-10369C>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.1600-10369C>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.1603-10369C>T
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1814C>T
  hgvsp: ENSP00000289269.5:p.Thr605Ile
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10369C>T
  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.2389-10369C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10369C>T
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10369C>T
  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.2395-10369C>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.2392-10369C>T
  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.2395-10369C>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.2395-10369C>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.1603-10369C>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.2389-10369C>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.2353-10369C>T
  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.2386-10369C>T
  variant of: http://identifiers.org/hgnc/8670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr605Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

5-140348190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348190
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348190
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000433416
  ensembl transcript: ENST00000529619
  gene symbol: PCDHA5
  hgvsc: ENST00000529619.1:c.2353-10344C>T
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10344C>T
  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.2386-10344C>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.2395-10344C>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.1603-10344C>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.2395-10344C>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.1603-10344C>T
  variant of: http://identifiers.org/hgnc/8672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1839C>T
  hgvsp: ENST00000289269.5:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10344C>T
  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.2389-10344C>T
  variant of: http://identifiers.org/hgnc/8668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10344C>T
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204965
  ensembl protein: ENSP00000436557
  ensembl transcript: ENST00000529859
  gene symbol: PCDHA5
  hgvsc: ENST00000529859.1:c.2353-10344C>T
  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.2386-10344C>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.2395-10344C>T
  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.2395-10344C>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.2356-10344C>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.2368-10344C>T
  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.1600-10344C>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.2392-10344C>T
  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.2395-10344C>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.2389-10344C>T
  variant of: http://identifiers.org/hgnc/8664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp613Asp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/5-140348197-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348197
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348197
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
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.2353-10337C>A
  variant of: http://identifiers.org/hgnc/8671
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10337C>A
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1846C>A
  hgvsp: ENSP00000289269.5:p.Gln616Lys
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204963
  ensembl protein: ENSP00000436426
  ensembl transcript: ENST00000525929
  gene symbol: PCDHA7
  hgvsc: ENST00000525929.1:c.2356-10337C>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.2395-10337C>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.2392-10337C>A
  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.2395-10337C>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.2386-10337C>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.2395-10337C>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.2386-10337C>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.2395-10337C>A
  variant of: http://identifiers.org/hgnc/8674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10337C>A
  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.2353-10337C>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.2389-10337C>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.1600-10337C>A
  variant of: http://identifiers.org/hgnc/8664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10337C>A
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10337C>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.2395-10337C>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.2389-10337C>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.1603-10337C>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.1603-10337C>A
  variant of: http://identifiers.org/hgnc/8672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln616Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

5-140348201-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140348201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140348201
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204970
  ensembl protein: ENSP00000420840
  ensembl transcript: ENST00000504120
  gene symbol: PCDHA1
  hgvsc: ENST00000504120.2:c.2395-10333A>G
  variant of: http://identifiers.org/hgnc/8663
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000289272
  ensembl transcript: ENST00000289272
  gene symbol: PCDHA13
  hgvsc: ENST00000289272.2:c.2395-10333A>G
  variant of: http://identifiers.org/hgnc/8667
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243232
  ensembl protein: ENSP00000289269
  ensembl transcript: ENST00000289269
  gene symbol: PCDHAC2
  hgvsc: ENST00000289269.5:c.1850A>G
  hgvsp: ENSP00000289269.5:p.Asn617Ser
  variant of: http://identifiers.org/hgnc/8677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250120
  ensembl protein: ENSP00000421030
  ensembl transcript: ENST00000506939
  gene symbol: PCDHA10
  hgvsc: ENST00000506939.2:c.1600-10333A>G
  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.2389-10333A>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.2392-10333A>G
  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.1603-10333A>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.2353-10333A>G
  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.2353-10333A>G
  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.2356-10333A>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.2395-10333A>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.2386-10333A>G
  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.2386-10333A>G
  variant of: http://identifiers.org/hgnc/8670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248383
  ensembl protein: ENSP00000253807
  ensembl transcript: ENST00000253807
  gene symbol: PCDHAC1
  hgvsc: ENST00000253807.2:c.2434-10333A>G
  variant of: http://identifiers.org/hgnc/8676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251664
  ensembl protein: ENSP00000381628
  ensembl transcript: ENST00000398631
  gene symbol: PCDHA12
  hgvsc: ENST00000398631.2:c.2368-10333A>G
  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.2389-10333A>G
  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.2395-10333A>G
  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.2395-10333A>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.1603-10333A>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.2395-10333A>G
  variant of: http://identifiers.org/hgnc/8669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239389
  ensembl protein: ENSP00000386821
  ensembl transcript: ENST00000409494
  gene symbol: PCDHA13
  hgvsc: ENST00000409494.1:c.2395-10333A>G
  variant of: http://identifiers.org/hgnc/8667
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Asn617Ser
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 449
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 304
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6994
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29271
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21013
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1163
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 47843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 8
allele frequency: 6.91323885240235e-4
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.603983e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

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

GenotypeDepth
all individuals: 449
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21022
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 449
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29276
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6989
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 674
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1160
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.588e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.35e0

FS
type: SiteQuality
SIO_000300: 3.638e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.602746e6

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6973
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29249
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 471
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

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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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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.504619180885318e-5
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num of homozygotes: 0

European (Finnish)
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South Asian
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East Asian
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African
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Other
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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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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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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Other
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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South Asian
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MQRankSum
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

Other
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European (Non-Finnish)
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allele count: 0
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East Asian
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allele count: 8
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African
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European (Finnish)
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South Asian
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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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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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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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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Other
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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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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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

African
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allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

Latino
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66398
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Latino
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European (Finnish)
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African
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East Asian
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South Asian
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ClippingRankSum
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FS
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DP
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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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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GenotypeDepth
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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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Latino
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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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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GenotypeDepth
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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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East Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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ClippingRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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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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GenotypeDepth
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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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European (Finnish)
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African
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South 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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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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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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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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African
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European (Finnish)
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Latino
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Other
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South Asian
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East Asian
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MQ
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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East Asian
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Latino
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African
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DP
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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VQSLOD
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MQ
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GenotypeDepth
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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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African
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European (Non-Finnish)
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Other
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European (Finnish)
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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Latino
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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MQ
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African
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.273035887487876e-3
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Other
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East Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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FS
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QD
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DP
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BaseQRankSum
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MQRankSum
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SIO_000300: -5.98e-1

InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 1
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allele num: 904
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African
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allele count: 0
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num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.510634618710012e-4
allele num: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.526040098741646e-5
allele num: 66436
num of homozygotes: 0

VQSLOD
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SIO_000300: 1.73e0

DP
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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SIO_000300: 2.96e-1

MQ
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QD
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BaseQRankSum
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SIO_000300: -3.56e0

ClippingRankSum
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SIO_000300: -1.74e-1

GenotypeDepth
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 502

Other
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allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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European (Non-Finnish)
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allele count: 35
allele frequency: 5.266484095218032e-4
allele num: 66458
num of homozygotes: 0

Latino
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allele frequency: 2.248356969906607e-3
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African
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East Asian
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European (Finnish)
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allele count: 0
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South Asian
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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MQ
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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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GenotypeDepth
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GenotypeDepth
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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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allele count: 1
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allele num: 66470
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East Asian
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African
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Latino
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Other
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South Asian
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European (Finnish)
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FS
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DP
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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SIO_000300: -7.49e-1

VQSLOD
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FS
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DP
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InbreedingCoeff
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MQ
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SIO_000300: 5.909e1

BaseQRankSum
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SIO_000300: -1.852e0

MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 596

GenotypeDepth
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GenotypeDepth
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variant carriers: 69

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 73

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 52

GenotypeQuality
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GenotypeQuality
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variant carriers: 1011

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 172
allele frequency: 2.600544299969761e-2
allele num: 6614
num of homozygotes: 3

Other
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European (Non-Finnish)
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allele count: 785
allele frequency: 1.180451127819549e-2
allele num: 66500
num of homozygotes: 8

African
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allele count: 28
allele frequency: 2.718974558166634e-3
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num of homozygotes: 0

Latino
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allele count: 25
allele frequency: 2.163003979927323e-3
allele num: 11558
num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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allele frequency: 3.638127577007034e-4
allele num: 16492
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InbreedingCoeff
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SIO_000300: 1.23e-2

ReadPosRankSum
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MQRankSum
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MQ
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QD
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VQSLOD
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FS
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BaseQRankSum
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SIO_000300: -2.96e-1

DP
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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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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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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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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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South Asian
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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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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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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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allele num: 6614
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East Asian
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European (Non-Finnish)
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Latino
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Other
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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African
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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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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MQ
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VQSLOD
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FS
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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FS
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QD
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MQ
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European (Finnish)
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South Asian
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European (Non-Finnish)
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DP
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European (Finnish)
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VQSLOD
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DP
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QD
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South Asian
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European (Finnish)
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African
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East Asian
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VQSLOD
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DP
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East Asian
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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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European (Finnish)
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European (Non-Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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FS
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DP
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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ClippingRankSum
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FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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Latino
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South Asian
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European (Finnish)
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Other
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BaseQRankSum
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FS
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InbreedingCoeff
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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East Asian
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South Asian
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QD
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FS
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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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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East Asian
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European (Finnish)
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Latino
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African
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BaseQRankSum
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MQ
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.0e-4

QD
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SIO_000300: 1.214e1

BaseQRankSum
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SIO_000300: -1.647e0

FS
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SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 1.598554e6

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -5.9e-1

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: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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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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variant carriers: 4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 12
allele frequency: 7.273608922293612e-4
allele num: 16498
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

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

MQ
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SIO_000300: 5.962e1

BaseQRankSum
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SIO_000300: -3.307e0

InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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SIO_000300: 1.268e1

DP
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SIO_000300: 1.599256e6

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

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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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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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
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SIO_000300: 2.81e-1

DP
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SIO_000300: 1.599869e6

BaseQRankSum
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SIO_000300: -3.333e0

FS
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SIO_000300: 6.941e0

MQRankSum
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SIO_000300: 6.97e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
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SIO_000300: 1.21e0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

African
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allele count: 7
allele frequency: 6.767208043310132e-4
allele num: 10344
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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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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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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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: 1

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

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

African
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allele 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

European (Finnish)
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Other
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South Asian
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DP
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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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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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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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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European (Finnish)
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African
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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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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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African
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South Asian
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Latino
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Other
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European (Finnish)
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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MQRankSum
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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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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 num: 16510
num of homozygotes: 0

African
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66706
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Other
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East Asian
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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African
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Other
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FS
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QD
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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QD
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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FS
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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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East Asian
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African
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European (Non-Finnish)
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South Asian
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FS
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQ
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DP
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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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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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VQSLOD
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MQ
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FS
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.208e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.418e1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.602253e6

GenotypeDepth
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21505
bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30228
bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6924
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.606e0

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.602392e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 905
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 82
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30223
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6926
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21518
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

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