10-55587248-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587248
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587248
    reference: chr 10
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17942A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4278A>G
  hgvsp: ENST00000414778.1:c.4278A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3105A>G
  hgvsp: ENST00000409834.1:c.3105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4272A>G
  hgvsp: ENST00000395438.1:c.4272A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4152A>G
  hgvsp: ENST00000395432.2:c.4152A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4263A>G
  hgvsp: ENST00000395430.1:c.4263A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4293A>G
  hgvsp: ENST00000373965.2:c.4293A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2414A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4059A>G
  hgvsp: ENST00000437009.1:c.4059A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4272A>G
  hgvsp: ENST00000320301.6:c.4272A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4293A>G
  hgvsp: ENST00000395445.1:c.4293A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4197A>G
  hgvsp: ENST00000395433.1:c.4197A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17942A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3827A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5355A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4272A>G
  hgvsp: ENST00000361849.3:c.4272A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*352A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1291A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17942A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2227A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro1424Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

10-55587255-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587255
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587255
    reference: chr 10
allele count: 9
allele frequency: 7.433224863311254e-5
allele num: 121078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2407C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4265C>G
  hgvsp: ENSP00000322604.6:p.Ala1422Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17949C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*345C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4052C>G
  hgvsp: ENSP00000412628.1:p.Ala1351Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17949C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4286C>G
  hgvsp: ENSP00000378832.1:p.Ala1429Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4256C>G
  hgvsp: ENSP00000378818.1:p.Ala1419Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4190C>G
  hgvsp: ENSP00000378821.1:p.Ala1397Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1284C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4145C>G
  hgvsp: ENSP00000378820.2:p.Ala1382Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5362C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3098C>G
  hgvsp: ENSP00000386693.1:p.Ala1033Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2220C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4265C>G
  hgvsp: ENSP00000378826.1:p.Ala1422Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4286C>G
  hgvsp: ENSP00000363076.2:p.Ala1429Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3820C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17949C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4271C>G
  hgvsp: ENSP00000410304.1:p.Ala1424Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4265C>G
  hgvsp: ENSP00000354950.3:p.Ala1422Gly
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1422Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

10-55587260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587260
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587260
    reference: chr 10
allele count: 4
allele frequency: 3.301474108189306e-5
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*340C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4140C>T
  hgvsp: ENST00000395432.2:c.4140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17954C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4260C>T
  hgvsp: ENST00000361849.3:c.4260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17954C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4260C>T
  hgvsp: ENST00000320301.6:c.4260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1279C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4251C>T
  hgvsp: ENST00000395430.1:c.4251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4185C>T
  hgvsp: ENST00000395433.1:c.4185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4281C>T
  hgvsp: ENST00000395445.1:c.4281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4281C>T
  hgvsp: ENST00000373965.2:c.4281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4260C>T
  hgvsp: ENST00000395438.1:c.4260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4266C>T
  hgvsp: ENST00000414778.1:c.4266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4047C>T
  hgvsp: ENST00000437009.1:c.4047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2402C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3815C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17954C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3093C>T
  hgvsp: ENST00000409834.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5367C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2215C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro1420Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

10-55587262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587262
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587262
    reference: chr 10
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4183C>T
  hgvsp: ENSP00000378821.1:p.Pro1395Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4138C>T
  hgvsp: ENSP00000378820.2:p.Pro1380Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5369C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4249C>T
  hgvsp: ENSP00000378818.1:p.Pro1417Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4258C>T
  hgvsp: ENSP00000378826.1:p.Pro1420Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4279C>T
  hgvsp: ENSP00000378832.1:p.Pro1427Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2400C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2213C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3813C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4258C>T
  hgvsp: ENSP00000354950.3:p.Pro1420Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4264C>T
  hgvsp: ENSP00000410304.1:p.Pro1422Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4258C>T
  hgvsp: ENSP00000322604.6:p.Pro1420Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4045C>T
  hgvsp: ENSP00000412628.1:p.Pro1349Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3091C>T
  hgvsp: ENSP00000386693.1:p.Pro1031Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17956C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17956C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1277C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4279C>T
  hgvsp: ENSP00000363076.2:p.Pro1427Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17956C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*338C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro1420Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

10-55587266-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587266
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587266
    reference: chr 10
allele count: 6
allele frequency: 4.949106686243133e-5
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3087A>G
  hgvsp: ENST00000409834.1:c.3087A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4245A>G
  hgvsp: ENST00000395430.1:c.4245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1273A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4254A>G
  hgvsp: ENST00000395438.1:c.4254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4260A>G
  hgvsp: ENST00000414778.1:c.4260A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4254A>G
  hgvsp: ENST00000320301.6:c.4254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4134A>G
  hgvsp: ENST00000395432.2:c.4134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3809A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4041A>G
  hgvsp: ENST00000437009.1:c.4041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4275A>G
  hgvsp: ENST00000373965.2:c.4275A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2209A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4179A>G
  hgvsp: ENST00000395433.1:c.4179A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17960A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4275A>G
  hgvsp: ENST00000395445.1:c.4275A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*334A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4254A>G
  hgvsp: ENST00000361849.3:c.4254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17960A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5373A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17960A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2396A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1418Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

10-55587269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587269
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587269
    reference: chr 10
allele count: 3
allele frequency: 2.473941153186436e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4251C>T
  hgvsp: ENST00000320301.6:c.4251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2206C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1270C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17963C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17963C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4176C>T
  hgvsp: ENST00000395433.1:c.4176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4038C>T
  hgvsp: ENST00000437009.1:c.4038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4251C>T
  hgvsp: ENST00000395438.1:c.4251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4242C>T
  hgvsp: ENST00000395430.1:c.4242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17963C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4131C>T
  hgvsp: ENST00000395432.2:c.4131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4251C>T
  hgvsp: ENST00000361849.3:c.4251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4272C>T
  hgvsp: ENST00000373965.2:c.4272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4272C>T
  hgvsp: ENST00000395445.1:c.4272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4257C>T
  hgvsp: ENST00000414778.1:c.4257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*331C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3806C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2393C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3084C>T
  hgvsp: ENST00000409834.1:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5376C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1417Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

10-55587270-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587270
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587270
    reference: chr 10
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2205C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4250C>G
  hgvsp: ENSP00000354950.3:p.Ala1417Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3805C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4250C>G
  hgvsp: ENSP00000322604.6:p.Ala1417Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4271C>G
  hgvsp: ENSP00000378832.1:p.Ala1424Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4037C>G
  hgvsp: ENSP00000412628.1:p.Ala1346Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17964C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4256C>G
  hgvsp: ENSP00000410304.1:p.Ala1419Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4130C>G
  hgvsp: ENSP00000378820.2:p.Ala1377Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4271C>G
  hgvsp: ENSP00000363076.2:p.Ala1424Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4241C>G
  hgvsp: ENSP00000378818.1:p.Ala1414Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*330C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3083C>G
  hgvsp: ENSP00000386693.1:p.Ala1028Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17964C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1269C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4175C>G
  hgvsp: ENSP00000378821.1:p.Ala1392Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2392C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17964C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4250C>G
  hgvsp: ENSP00000378826.1:p.Ala1417Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5377C>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1417Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

10-55587274-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587274
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587274
    reference: chr 10
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4126C>A
  hgvsp: ENSP00000378820.2:p.Gln1376Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3801C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17968C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4246C>A
  hgvsp: ENSP00000354950.3:p.Gln1416Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4267C>A
  hgvsp: ENSP00000378832.1:p.Gln1423Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4237C>A
  hgvsp: ENSP00000378818.1:p.Gln1413Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4252C>A
  hgvsp: ENSP00000410304.1:p.Gln1418Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4246C>A
  hgvsp: ENSP00000322604.6:p.Gln1416Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3079C>A
  hgvsp: ENSP00000386693.1:p.Gln1027Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4267C>A
  hgvsp: ENSP00000363076.2:p.Gln1423Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4246C>A
  hgvsp: ENSP00000378826.1:p.Gln1416Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2201C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4171C>A
  hgvsp: ENSP00000378821.1:p.Gln1391Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1265C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4033C>A
  hgvsp: ENSP00000412628.1:p.Gln1345Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5381C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17968C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2388C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17968C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*326C>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1416Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/10-55587276-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587276
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587276
    reference: chr 10
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3077T>G
  hgvsp: ENSP00000386693.1:p.Ile1026Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4235T>G
  hgvsp: ENSP00000378818.1:p.Ile1412Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2199T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4244T>G
  hgvsp: ENSP00000354950.3:p.Ile1415Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17970T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17970T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2386T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4124T>G
  hgvsp: ENSP00000378820.2:p.Ile1375Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3799T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4244T>G
  hgvsp: ENSP00000322604.6:p.Ile1415Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4244T>G
  hgvsp: ENSP00000378826.1:p.Ile1415Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17970T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*324T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4031T>G
  hgvsp: ENSP00000412628.1:p.Ile1344Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4265T>G
  hgvsp: ENSP00000363076.2:p.Ile1422Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1263T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4250T>G
  hgvsp: ENSP00000410304.1:p.Ile1417Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5383T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4169T>G
  hgvsp: ENSP00000378821.1:p.Ile1390Ser
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4265T>G
  hgvsp: ENSP00000378832.1:p.Ile1422Ser
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile1415Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

10-55587284-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587284
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587284
    reference: chr 10
allele count: 10
allele frequency: 8.243887157672586e-5
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4116T>C
  hgvsp: ENST00000395432.2:c.4116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4257T>C
  hgvsp: ENST00000395445.1:c.4257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2378T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4023T>C
  hgvsp: ENST00000437009.1:c.4023T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4236T>C
  hgvsp: ENST00000361849.3:c.4236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4236T>C
  hgvsp: ENST00000395438.1:c.4236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17978T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4227T>C
  hgvsp: ENST00000395430.1:c.4227T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17978T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2191T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4161T>C
  hgvsp: ENST00000395433.1:c.4161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*316T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5391T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4257T>C
  hgvsp: ENST00000373965.2:c.4257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4236T>C
  hgvsp: ENST00000320301.6:c.4236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17978T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3069T>C
  hgvsp: ENST00000409834.1:c.3069T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3791T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1255T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4242T>C
  hgvsp: ENST00000414778.1:c.4242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr1412Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

10-55587287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587287
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587287
    reference: chr 10
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4254G>A
  hgvsp: ENST00000373965.2:c.4254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4020G>A
  hgvsp: ENST00000437009.1:c.4020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4254G>A
  hgvsp: ENST00000395445.1:c.4254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4233G>A
  hgvsp: ENST00000361849.3:c.4233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4239G>A
  hgvsp: ENST00000414778.1:c.4239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4233G>A
  hgvsp: ENST00000395438.1:c.4233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2375G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4113G>A
  hgvsp: ENST00000395432.2:c.4113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2188G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3066G>A
  hgvsp: ENST00000409834.1:c.3066G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4158G>A
  hgvsp: ENST00000395433.1:c.4158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17981G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4224G>A
  hgvsp: ENST00000395430.1:c.4224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4233G>A
  hgvsp: ENST00000320301.6:c.4233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5394G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17981G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1252G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17981G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3788G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys1411Lys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

10-55587290-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587290
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587289
    reference: chr 10
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17985delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1248delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3784delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4016delC
  hgvsp: ENSP00000412628.1:p.Thr1339LysfsTer47
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3062delC
  hgvsp: ENSP00000386693.1:p.Thr1021LysfsTer57
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4109delC
  hgvsp: ENSP00000378820.2:p.Thr1370LysfsTer73
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4229delC
  hgvsp: ENSP00000354950.3:p.Thr1410LysfsTer75
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4250delC
  hgvsp: ENSP00000363076.2:p.Thr1417LysfsTer91
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2184delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4220delC
  hgvsp: ENSP00000378818.1:p.Thr1407LysfsTer73
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*309delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4229delC
  hgvsp: ENSP00000322604.6:p.Thr1410LysfsTer73
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4154delC
  hgvsp: ENSP00000378821.1:p.Thr1385LysfsTer75
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5398delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4250delC
  hgvsp: ENSP00000378832.1:p.Thr1417LysfsTer107
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4235delC
  hgvsp: ENSP00000410304.1:p.Thr1412LysfsTer93
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17985delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4229delC
  hgvsp: ENSP00000378826.1:p.Thr1410LysfsTer57
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2371delC
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17985delC
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr1410LysfsTer75
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: TG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

10-55587298-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587298
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587298
    reference: chr 10
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4213G>C
  hgvsp: ENSP00000378818.1:p.Glu1405Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2177G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4009G>C
  hgvsp: ENSP00000412628.1:p.Glu1337Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4228G>C
  hgvsp: ENSP00000410304.1:p.Glu1410Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4222G>C
  hgvsp: ENSP00000378826.1:p.Glu1408Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5405G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4147G>C
  hgvsp: ENSP00000378821.1:p.Glu1383Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4243G>C
  hgvsp: ENSP00000378832.1:p.Glu1415Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3777G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4222G>C
  hgvsp: ENSP00000322604.6:p.Glu1408Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17992G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4222G>C
  hgvsp: ENSP00000354950.3:p.Glu1408Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3055G>C
  hgvsp: ENSP00000386693.1:p.Glu1019Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4102G>C
  hgvsp: ENSP00000378820.2:p.Glu1368Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2364G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17992G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17992G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*302G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4243G>C
  hgvsp: ENSP00000363076.2:p.Glu1415Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1241G>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1408Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

10-55587303-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587303
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587303
    reference: chr 10
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4238A>G
  hgvsp: ENSP00000378832.1:p.Gln1413Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4217A>G
  hgvsp: ENSP00000378826.1:p.Gln1406Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3050A>G
  hgvsp: ENSP00000386693.1:p.Gln1017Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4217A>G
  hgvsp: ENSP00000322604.6:p.Gln1406Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4142A>G
  hgvsp: ENSP00000378821.1:p.Gln1381Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4004A>G
  hgvsp: ENSP00000412628.1:p.Gln1335Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2359A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4238A>G
  hgvsp: ENSP00000363076.2:p.Gln1413Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-17997A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4097A>G
  hgvsp: ENSP00000378820.2:p.Gln1366Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5410A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4217A>G
  hgvsp: ENSP00000354950.3:p.Gln1406Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4223A>G
  hgvsp: ENSP00000410304.1:p.Gln1408Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-17997A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1236A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4208A>G
  hgvsp: ENSP00000378818.1:p.Gln1403Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2172A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-17997A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3772A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1406Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

10-55587306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587306
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587306
    reference: chr 10
allele count: 4
allele frequency: 3.299023489047242e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4205G>A
  hgvsp: ENSP00000378818.1:p.Arg1402His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18000G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3769G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4001G>A
  hgvsp: ENSP00000412628.1:p.Arg1334His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4214G>A
  hgvsp: ENSP00000354950.3:p.Arg1405His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4235G>A
  hgvsp: ENSP00000363076.2:p.Arg1412His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2356G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18000G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4139G>A
  hgvsp: ENSP00000378821.1:p.Arg1380His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4214G>A
  hgvsp: ENSP00000322604.6:p.Arg1405His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4235G>A
  hgvsp: ENSP00000378832.1:p.Arg1412His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2169G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1233G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3047G>A
  hgvsp: ENSP00000386693.1:p.Arg1016His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4220G>A
  hgvsp: ENSP00000410304.1:p.Arg1407His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4094G>A
  hgvsp: ENSP00000378820.2:p.Arg1365His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4214G>A
  hgvsp: ENSP00000378826.1:p.Arg1405His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5413G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1405His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

10-55587307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587307
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587307
    reference: chr 10
allele count: 3
allele frequency: 2.474349246148263e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3046C>T
  hgvsp: ENSP00000386693.1:p.Arg1016Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4093C>T
  hgvsp: ENSP00000378820.2:p.Arg1365Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4213C>T
  hgvsp: ENSP00000378826.1:p.Arg1405Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4234C>T
  hgvsp: ENSP00000378832.1:p.Arg1412Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4138C>T
  hgvsp: ENSP00000378821.1:p.Arg1380Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5414C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4234C>T
  hgvsp: ENSP00000363076.2:p.Arg1412Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18001C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4219C>T
  hgvsp: ENSP00000410304.1:p.Arg1407Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4000C>T
  hgvsp: ENSP00000412628.1:p.Arg1334Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3768C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*293C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4213C>T
  hgvsp: ENSP00000354950.3:p.Arg1405Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1232C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2355C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2168C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18001C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18001C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1405Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

10-55587307-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587307
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587307
    reference: chr 10
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4213C>G
  hgvsp: ENSP00000322604.6:p.Arg1405Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3046C>G
  hgvsp: ENSP00000386693.1:p.Arg1016Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4213C>G
  hgvsp: ENSP00000378826.1:p.Arg1405Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2168C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4234C>G
  hgvsp: ENSP00000378832.1:p.Arg1412Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5414C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18001C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4234C>G
  hgvsp: ENSP00000363076.2:p.Arg1412Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4138C>G
  hgvsp: ENSP00000378821.1:p.Arg1380Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2355C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4204C>G
  hgvsp: ENSP00000378818.1:p.Arg1402Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.4000C>G
  hgvsp: ENSP00000412628.1:p.Arg1334Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1232C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4213C>G
  hgvsp: ENSP00000354950.3:p.Arg1405Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4093C>G
  hgvsp: ENSP00000378820.2:p.Arg1365Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4219C>G
  hgvsp: ENSP00000410304.1:p.Arg1407Gly
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18001C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*293C>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1405Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

10-55587316-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587316
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587316
    reference: chr 10
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4233-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4212-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3759T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18010T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4212-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4233-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3045-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1231-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18010T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5423T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18010T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2354-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2167-8T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4212-8T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4212-8T>C
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-55587326-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587326
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587326
    reference: chr 10
allele count: 2
allele frequency: 1.654232353476369e-5
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2167-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18020A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18020A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1231-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*292-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3045-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4233-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2354-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3749A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4212-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4233-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5433A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4212-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18020A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-18A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4212-18A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

10-55587327-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587327
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587327
    reference: chr 10
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4212-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3045-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18021C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5434C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2354-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4212-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3748C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4212-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4233-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*292-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1231-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2167-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4233-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18021C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-19C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18021C>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

10-55587328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587328
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587328
    reference: chr 10
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*292-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3045-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18022C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2167-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18022C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4212-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4233-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5435C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4233-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18022C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2354-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4212-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1231-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4212-20C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3747C>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

10-55587328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587328
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587328
    reference: chr 10
allele count: 3
allele frequency: 2.48245730173441e-5
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5435C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3045-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4233-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4233-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2167-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*292-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3747C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4212-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4212-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1231-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2354-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18022C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18022C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4212-20C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18022C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-20C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

10-55587359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55587359
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55587359
    reference: chr 10
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3045-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-5466G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18053G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18053G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*292-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18053G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4233-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4212-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2354-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4212-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2167-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4212-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4233-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1231-51G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+3716G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-51G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

10-55588281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588281
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588281
    reference: chr 10
allele count: 1
allele frequency: 8.391232839928842e-6
allele num: 119172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-973A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-973A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-973A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6388A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2794A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18975A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18975A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18975A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-973A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-973A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

10-55588293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588293
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588293
    reference: chr 10
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2782T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-985T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-985T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-985T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18987T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6400T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18987T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-985T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-985T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+32T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18987T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+32T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-55588297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588297
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588297
    reference: chr 10
allele count: 1
allele frequency: 8.387572971884856e-6
allele num: 119224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18991C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18991C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2778C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18991C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-989C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-989C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-989C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-989C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-989C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6404C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+28C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+28C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-55588300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588300
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588300
    reference: chr 10
allele count: 1
allele frequency: 8.381527114240214e-6
allele num: 119310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18994A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2775A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-992A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-992A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-992A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18994A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-992A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-992A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6407A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+25A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18994A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

10-55588301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588301
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588301
    reference: chr 10
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-18995C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-993C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-993C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6408C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-993C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-18995C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-993C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-993C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-18995C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2774C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/10-55588313-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588313
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588313
    reference: chr 10
allele count: 1
allele frequency: 8.37184381488179e-6
allele num: 119448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19007T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1005T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1005T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1005T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1005T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6420T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19007T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2762T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1005T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+12T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19007T>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

10-55588314-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588314
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588314
    reference: chr 10
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2761T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19008T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1006T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19008T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1006T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6421T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1006T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1006T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1006T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+11T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19008T>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

10-55588317-A-ATACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588317
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588321
    reference: chr 10
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: ATACT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1013_4218-1010dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1013_4092-1010dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+4_4232+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+4_4232+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19015_1306-19012dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+4_*291+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+4_4211+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+4_4211+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19015_2092-19012dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2754_852+2757dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+4_*2353+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+4_4211+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+4_3044+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1013_4137-1010dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+4_1230+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1013_3999-1010dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19015_1099-19012dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+4_*2166+7dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6428_2155-6425dupAGTA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1013_4203-1010dupAGTA
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4211+4_4211+7dupAGTA
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

10-55588318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588318
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588318
    reference: chr 10
allele count: 2
allele frequency: 1.672968180145214e-5
allele num: 119548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6425A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2757A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1010A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19012A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19012A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19012A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1010A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1010A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1010A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1010A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+7A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+7A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4211+7A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

10-55588322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588322
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588322
    reference: chr 10
allele count: 2
allele frequency: 1.672045078335312e-5
allele num: 119614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19016A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1014A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1014A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6429A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2753A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1014A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19016A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1014A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1014A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19016A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4211+3A>G
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/10-55588323-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588323
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588323
    reference: chr 10
allele count: 11
allele frequency: 9.196401698826205e-5
allele num: 119612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4232+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*291+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4211+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1015T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4232+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4211+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3044+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4211+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1230+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2752T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2353+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19017T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1015T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1015T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1015T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6430T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19017T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2166+2T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19017T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1015T>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4211+2T>G
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

10-55588326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588326
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588326
    reference: chr 10
allele count: 1
allele frequency: 8.356313194618534e-6
allele num: 119670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6433G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1018G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1018G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4210G>A
  hgvsp: ENSP00000322604.6:p.Val1404Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2352G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4210G>A
  hgvsp: ENSP00000378826.1:p.Val1404Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4210G>A
  hgvsp: ENSP00000354950.3:p.Val1404Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1018G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19020G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4231G>A
  hgvsp: ENSP00000378832.1:p.Val1411Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1018G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2749G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*290G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19020G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3043G>A
  hgvsp: ENSP00000386693.1:p.Val1015Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19020G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1229G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4231G>A
  hgvsp: ENSP00000363076.2:p.Val1411Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2165G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val1404Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

10-55588328-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588328
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588328
    reference: chr 10
allele count: 2
allele frequency: 1.670871693762636e-5
allele num: 119698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2350A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4208A>G
  hgvsp: ENSP00000322604.6:p.Lys1403Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1020A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*288A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1020A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1020A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4229A>G
  hgvsp: ENSP00000378832.1:p.Lys1410Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1020A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2163A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4208A>G
  hgvsp: ENSP00000354950.3:p.Lys1403Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19022A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1227A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19022A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6435A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19022A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3041A>G
  hgvsp: ENSP00000386693.1:p.Lys1014Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4229A>G
  hgvsp: ENSP00000363076.2:p.Lys1410Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4208A>G
  hgvsp: ENSP00000378826.1:p.Lys1403Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2747A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1020A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys1403Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

10-55588329-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588329
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588329
    reference: chr 10
allele count: 4
allele frequency: 3.341129301703976e-5
allele num: 119720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2746A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1021A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3040A>C
  hgvsp: ENSP00000386693.1:p.Lys1014Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1021A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4207A>C
  hgvsp: ENSP00000322604.6:p.Lys1403Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1226A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4228A>C
  hgvsp: ENSP00000378832.1:p.Lys1410Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4228A>C
  hgvsp: ENSP00000363076.2:p.Lys1410Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19023A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4207A>C
  hgvsp: ENSP00000378826.1:p.Lys1403Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4207A>C
  hgvsp: ENSP00000354950.3:p.Lys1403Gln
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2349A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1021A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*287A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6436A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19023A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1021A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2162A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1021A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19023A>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys1403Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/10-55588333-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588333
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588333
    reference: chr 10
allele count: 1
allele frequency: 8.351149118118652e-6
allele num: 119744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6440G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1025G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224G>T
  hgvsp: ENSP00000378832.1:p.Gln1408His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19027G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1025G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203G>T
  hgvsp: ENSP00000354950.3:p.Gln1401His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1025G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19027G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1025G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1025G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224G>T
  hgvsp: ENSP00000363076.2:p.Gln1408His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036G>T
  hgvsp: ENSP00000386693.1:p.Gln1012His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203G>T
  hgvsp: ENSP00000322604.6:p.Gln1401His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19027G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2742G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203G>T
  hgvsp: ENSP00000378826.1:p.Gln1401His
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1401His
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

10-55588336-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588336
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588335
    reference: chr 10
allele count: 1
allele frequency: 8.349336227769892e-6
allele num: 119770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2738delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1029delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19031delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1029delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6444delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1029delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1029delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19031delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19031delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2345-4delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1029delA
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4203-4delA
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: GT
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

10-55588341-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588341
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588341
    reference: chr 10
allele count: 7
allele frequency: 5.843071786310518e-5
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19035C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2734C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1033C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1033C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19035C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19035C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6448C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2345-8C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1033C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1033C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1033C>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4203-8C>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-55588342-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588342
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588342
    reference: chr 10
allele count: 1
allele frequency: 8.347663488989432e-6
allele num: 119794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1034C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19036C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6449C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2733C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2345-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1034C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19036C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19036C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1034C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036-9C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1034C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1034C>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

10-55588355-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588355
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588355
    reference: chr 10
allele count: 1
allele frequency: 8.351428094204109e-6
allele num: 119740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19049T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1047T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1047T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1047T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19049T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1047T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2720T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6462T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1047T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2345-22T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19049T>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

10-55588377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588377
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588377
    reference: chr 10
allele count: 5
allele frequency: 4.187394268294726e-5
allele num: 119406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1069C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1069C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2345-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2698C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6484C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1069C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19071C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19071C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1069C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222-44C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19071C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1069C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

10-55588380-C-CCACATCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588380
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588387
    reference: chr 10
allele count: 2
allele frequency: 1.675940202453577e-5
allele num: 119336
alternate allele: CCACATCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224-48_4224-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158-48_*2158-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283-48_*283-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222-48_1222-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036-48_3036-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203-48_4203-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2345-48_*2345-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203-48_4203-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224-48_4224-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203-48_4203-47insAGATGTG
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 12857
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/10-55588382-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588382
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55588382
    reference: chr 10
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4092-1074T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4224-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-19076T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+2693T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4203-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3999-1074T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3036-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4203-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*283-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4203-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4224-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4137-1074T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2345-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1222-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-6489T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4218-1074T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-19076T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2158-49T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4203-1074T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-19076T>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

10-55590865-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590865
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590865
    reference: chr 10
allele count: 1
allele frequency: 8.747222756774724e-6
allele num: 114322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21559C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21559C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-8972C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3998+49C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21559C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+210C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+210C>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

10-55590868-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590868
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590868
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 114374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21562A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-8975A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21562A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3998+46A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+207A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21562A>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

10-55590873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590873
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590873
    reference: chr 10
allele count: 1
allele frequency: 8.743551630672379e-6
allele num: 114370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-8980C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21567C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21567C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21567C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3998+41C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+202C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+202C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

10-55590888-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590888
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590887
    reference: chr 10
allele count: 9
allele frequency: 7.85683107813182e-5
allele num: 114550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-8996delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21583delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21583delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3998+25delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+186delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21583delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+186delA
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: AT
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

10-55590890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590890
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590890
    reference: chr 10
allele count: 1
allele frequency: 8.731031833342064e-6
allele num: 114534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21584C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-8997C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21584C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3998+24C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21584C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+185C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+185C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

10-55590908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590908
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590908
    reference: chr 10
allele count: 1
allele frequency: 8.698526469616046e-6
allele num: 114962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3998+6C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21602C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21602C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9015C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21602C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+167C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+167C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3998+6C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

10-55590911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590911
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590911
    reference: chr 10
allele count: 1
allele frequency: 8.681610612400813e-6
allele num: 115186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9018A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21605A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21605A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3998+3A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+164A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21605A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+164A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3998+3A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

10-55590918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590918
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590918
    reference: chr 10
allele count: 2
allele frequency: 1.744743958824043e-5
allele num: 114630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9025A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21612A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3994A>G
  hgvsp: ENSP00000412628.1:p.Lys1332Glu
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+157A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21612A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21612A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys1332Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

10-55590930-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590930
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590930
    reference: chr 10
allele count: 1
allele frequency: 9.02233931213685e-6
allele num: 110836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-8A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21624A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21624A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21624A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9037A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+145A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+145A>C
  variant of: http://identifiers.org/hgnc/14674
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3990-8A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

10-55590937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590937
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590937
    reference: chr 10
allele count: 2
allele frequency: 2.133651958692498e-5
allele num: 93736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21631G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21631G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9044G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21631G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+138G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-15G>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

10-55590937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590937
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590937
    reference: chr 10
allele count: 4
allele frequency: 4.267303917384996e-5
allele num: 93736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21631G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9044G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-15G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21631G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21631G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+138G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+138G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

10-55590938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590938
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590938
    reference: chr 10
allele count: 46
allele frequency: 4.920733403222011e-4
allele num: 93482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-16C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9045C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21632C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21632C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21632C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+137C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+137C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

10-55590942-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590942
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590942
    reference: chr 10
allele count: 20
allele frequency: 1.692476940001692e-4
allele num: 118170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21636A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9049A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-20A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21636A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+133A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21636A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

10-55590942-TAGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590942
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590938
    reference: chr 10
allele count: 49662
allele frequency: 4.202589489718203e-1
allele num: 118170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+129_4202+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+129_4223+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+129_4136+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+129_*2157+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+129_4217+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+129_4202+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+129_*282+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+129_4223+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+129_1221+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+129_4091+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+129_3035+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-24_3990-21delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+129_852+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21640_1099-21637delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9053_2155-9050delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21640_1306-21637delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+129_*2344+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+129_4202+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+129_4202+132delGTCT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21640_2092-21637delGTCT
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 10364
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: TAGAC
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

10-55590950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590950
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590950
    reference: chr 10
allele count: 49689
allele frequency: 4.192739975698663e-1
allele num: 118512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9057G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21644G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000463095
  gene symbol: PCDH15
  hgvsc: ENST00000463095.1:n.1221+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-28G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.4223+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.4202+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.3035+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1306-21644G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.4217+125G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21644G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+125G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 10357
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

10-55590954-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55590954
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55590954
    reference: chr 10
allele count: 5
allele frequency: 4.265629265629266e-5
allele num: 117216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.4136+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.4202+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.4091+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.*282+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.852+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.*2157+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.4202+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.4223+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.2155-9061A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.2092-21648A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.*2344+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.4202+121A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1099-21648A>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.3990-32A>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 212
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 663
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23726
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9109
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 187
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1271
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15602
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2599
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9881
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

DP
type: SiteQuality
SIO_000300: 1.869824e6

GenotypeDepth
all individuals: 9183
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2598
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23768
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 663
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5796
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15620
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4108
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4269
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.453884377651194e-4
allele num: 16502
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

DP
type: SiteQuality
SIO_000300: 1.872204e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.029e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.144e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1268
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 187
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23785
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 663
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9243
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15635
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2601
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.25e1
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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num of homozygotes: 0

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

Other
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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allele count: 1
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allele num: 6606
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Latino
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BaseQRankSum
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SIO_000300: 7.5e-1

ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 num: 66662
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East Asian
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Other
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African
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Latino
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South Asian
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European (Finnish)
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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South Asian
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African
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European (Non-Finnish)
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FS
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VQSLOD
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MQRankSum
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MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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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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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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African
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Latino
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MQ
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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FS
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QD
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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Latino
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European (Non-Finnish)
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FS
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VQSLOD
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DP
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MQ
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QD
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GenotypeQuality
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Latino
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African
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East Asian
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FS
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VQSLOD
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MQ
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variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4090
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.595e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.658e0

VQSLOD
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

DP
type: SiteQuality
SIO_000300: 1.873209e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.498e1

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

GenotypeDepth
all individuals: 23854
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 662
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15592
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5782
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9270
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 431
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2594
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1265
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4260
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4091
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 6.995e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 1.872284e6

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.874e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000412531
ensembl transcript: ENST00000414367
gene symbol: PCDH15
hgvsc: ENST00000414367.1:c.*294G>A
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378827
ensembl transcript: ENST00000395440
gene symbol: PCDH15
hgvsc: ENST00000395440.1:c.1306-18000G>A
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 185
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23849
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5784
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9252
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 662
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15586
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2593
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 217
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1264
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4088
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2774
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 3.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.109e-1

QD
type: SiteQuality
SIO_000300: 1.948e1

DP
type: SiteQuality
SIO_000300: 1.871904e6

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378818
ensembl transcript: ENST00000395430
gene symbol: PCDH15
hgvsc: ENST00000395430.1:c.4204C>T
hgvsp: ENSP00000378818.1:p.Arg1402Cys
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000322604
ensembl transcript: ENST00000320301
gene symbol: PCDH15
hgvsc: ENST00000320301.6:c.4213C>T
hgvsp: ENSP00000322604.6:p.Arg1405Cys
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23841
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9249
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5783
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 662
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 217
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2591
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2775
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1518
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4251
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33605
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.043e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 1.871586e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

QD
type: SiteQuality
SIO_000300: 1.167e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl transcript: ENST00000495484
gene symbol: PCDH15
hgvsc: ENST00000495484.1:n.852+3768C>G
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378827
ensembl transcript: ENST00000395440
gene symbol: PCDH15
hgvsc: ENST00000395440.1:c.1306-18001C>G
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 662
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23841
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9249
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5783
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2591
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3078
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.871586e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 1.043e0

QD
type: SiteQuality
SIO_000300: 1.167e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000412531
ensembl transcript: ENST00000414367
gene symbol: PCDH15
hgvsc: ENST00000414367.1:c.*292-8T>C
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 2589
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9156
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 660
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15531
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1261
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23734
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5775
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 8.448e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.704e0

QD
type: SiteQuality
SIO_000300: 1.635e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.867313e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.372e0

GenotypeDepth
all individuals: 8953
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15223
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1257
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2574
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5679
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23231
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 378
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4077
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9631
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009872381411028e-5
allele num: 66448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 4.114e0

DP
type: SiteQuality
SIO_000300: 1.849252e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.187e0

QD
type: SiteQuality
SIO_000300: 1.427e1

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8947
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1143
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5649
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15170
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1255
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2572
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23150
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 788
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.787e0

DP
type: SiteQuality
SIO_000300: 1.846235e6

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeDepth
all individuals: 1252
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23078
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15104
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2568
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5627
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8955
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 6.51e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 1.843258e6

QD
type: SiteQuality
SIO_000300: 1.159e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1252
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2568
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15104
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23078
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5627
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8955
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 844
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.00924251557163e-4
allele num: 9954
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 2.046329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.678e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

GenotypeDepth
all individuals: 4124
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9109
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12580
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 787
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1267
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6263
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16963
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 502
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13612
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65732
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.332089552238806e-4
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e0

VQSLOD
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.049326e6

FS
type: SiteQuality
SIO_000300: 3.039e0

QD
type: SiteQuality
SIO_000300: 1.044e1

GenotypeDepth
all individuals: 1080
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4127
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2555
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9117
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16939
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12602
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 6262
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1248
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 785
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6116
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13621
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.673461936347593e-4
allele num: 65732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.727e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.17e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

DP
type: SiteQuality
SIO_000300: 2.049773e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000410304
ensembl transcript: ENST00000414778
gene symbol: PCDH15
hgvsc: ENST00000414778.1:c.4218-1018G>A
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17031
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12671
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4126
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9143
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6266
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2555
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1161
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-2

QD
type: SiteQuality
SIO_000300: 9.34e0

FS
type: SiteQuality
SIO_000300: 6.857e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 2.052044e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.825e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

GenotypeDepth
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 741
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1168
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4125
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17024
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6265
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9126
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12714
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2555
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3977
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13615
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3625
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03988326848249e-5
allele num: 65792
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

DP
type: SiteQuality
SIO_000300: 2.052414e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeDepth
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6266
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17040
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 725
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1142
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 736
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
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variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12739
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 307
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variant carriers: 0

GenotypeDepth
all individuals: 388
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variant carriers: 0

GenotypeDepth
all individuals: 4126
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9128
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13615
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.441108263151471e-4
allele num: 16386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.143e0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 2.053056e6

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363067
ensembl transcript: ENST00000373956
gene symbol: PCDH15
hgvsc: ENST00000373956.3:c.*2345G>T
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 9135
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17075
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 720
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12793
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1714
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2554
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6265
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1079
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4127
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1084
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3626
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

QD
type: SiteQuality
SIO_000300: 1.535e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

DP
type: SiteQuality
SIO_000300: 2.054276e6

GenotypeDepth
all individuals: 6271
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16881
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 725
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1714
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9152
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4129
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2554
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1163
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12862
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1079
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 2.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.054331e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.035e0

GenotypeDepth
all individuals: 1081
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 680
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4127
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16683
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6266
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9154
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12924
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2556
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1230
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1716
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13619
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6110
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2765
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.000800160032006e-4
allele num: 9998
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 2.054002e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

FS
type: SiteQuality
SIO_000300: 3.277e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.805e0

GenotypeDepth
all individuals: 2556
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16560
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6268
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1079
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9160
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4127
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1286
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1716
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12929
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 13614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518418415378542e-5
allele num: 65858
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 2.053227e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

QD
type: SiteQuality
SIO_000300: 1.487e1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

GenotypeDepth
all individuals: 9145
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
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variant carriers: 0

GenotypeDepth
all individuals: 1119
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 12936
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
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variant carriers: 0

GenotypeDepth
all individuals: 4126
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variant carriers: 0

GenotypeDepth
all individuals: 6264
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1443
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2554
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15128
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1716
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1835
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5993
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3957
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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FS
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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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European (Finnish)
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African
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East Asian
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Other
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European (Non-Finnish)
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Latino
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 2
allele frequency: 3.050175385084642e-5
allele num: 65570
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11394
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Other
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East Asian
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ClippingRankSum
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FS
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VQSLOD
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QD
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16240
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African
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East Asian
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European (Finnish)
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Other
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MQ
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QD
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MQRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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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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variant carriers: 0

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

South Asian
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allele frequency: 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: 7452
num of homozygotes: 0

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

African
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Other
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European (Non-Finnish)
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allele count: 1
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allele num: 61226
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -6.5e-3

BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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MQ
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VQSLOD
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DP
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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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num of homozygotes: 0

Other
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European (Finnish)
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European (Non-Finnish)
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allele num: 54006
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Latino
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South Asian
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African
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QD
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

Latino
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Other
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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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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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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variant carriers: 0

GenotypeQuality
all individuals: 12394
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 2522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
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variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.479399363858274e-4
allele num: 54076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 6.017191977077364e-3
allele num: 3490
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.62143891839691e-4
allele num: 8284
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.524861878453039e-4
allele num: 12670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.238499646142958e-3
allele num: 5652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.346e0

VQSLOD
type: SiteQuality
SIO_000300: -1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.403e0

QD
type: SiteQuality
SIO_000300: 1.124e1

MQ
type: SiteQuality
SIO_000300: 5.177e1

DP
type: SiteQuality
SIO_000300: 2.255039e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

GenotypeDepth
all individuals: 1887
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3218
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4136
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1840
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8998
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1329
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1475
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7924
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 9383
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 855
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 6016
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2649
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1017
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 881
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7020
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41047
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3841
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.842751842751843e-4
allele num: 65120
num of homozygotes: 1

South Asian
type: Population
allele count: 5
allele frequency: 3.0517578125e-4
allele num: 16384
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.774622892635315e-4
allele num: 11270
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.394e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.597e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQ
type: SiteQuality
SIO_000300: 5.225e1

DP
type: SiteQuality
SIO_000300: 2.376507e6

GenotypeDepth
all individuals: 881
bin: 7.25e1
variant carriers: 659

GenotypeDepth
all individuals: 342
bin: 9.25e1
variant carriers: 232

GenotypeDepth
all individuals: 1017
bin: 6.75e1
variant carriers: 713

GenotypeDepth
all individuals: 855
bin: 7.5e0
variant carriers: 321

GenotypeDepth
all individuals: 1840
bin: 5.75e1
variant carriers: 1229

GenotypeDepth
all individuals: 7924
bin: 3.75e1
variant carriers: 4933

GenotypeDepth
all individuals: 6016
bin: 4.25e1
variant carriers: 3630

GenotypeDepth
all individuals: 126
bin: 2.5e0
variant carriers: 28

GenotypeDepth
all individuals: 3218
bin: 1.75e1
variant carriers: 2922

GenotypeDepth
all individuals: 1329
bin: 6.25e1
variant carriers: 898

GenotypeDepth
all individuals: 7020
bin: 2.25e1
variant carriers: 4913

GenotypeDepth
all individuals: 1475
bin: 1.25e1
variant carriers: 1250

GenotypeDepth
all individuals: 2649
bin: 5.25e1
variant carriers: 1559

GenotypeDepth
all individuals: 4136
bin: 4.75e1
variant carriers: 2417

GenotypeDepth
all individuals: 642
bin: 7.75e1
variant carriers: 482

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 398

GenotypeDepth
all individuals: 9383
bin: 3.25e1
variant carriers: 6037

GenotypeDepth
all individuals: 8998
bin: 2.75e1
variant carriers: 6063

GenotypeDepth
all individuals: 1887
bin: 9.75e1
variant carriers: 1219

GenotypeDepth
all individuals: 399
bin: 8.75e1
variant carriers: 260

GenotypeQuality
all individuals: 530
bin: 5.75e1
variant carriers: 465

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 155

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 298

GenotypeQuality
all individuals: 1637
bin: 7.25e1
variant carriers: 610

GenotypeQuality
all individuals: 454
bin: 4.75e1
variant carriers: 366

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 143

GenotypeQuality
all individuals: 267
bin: 2.5e0
variant carriers: 130

GenotypeQuality
all individuals: 3841
bin: 6.25e1
variant carriers: 663

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 145

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 135

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 256

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 191

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 487

GenotypeQuality
all individuals: 1791
bin: 9.25e1
variant carriers: 618

GenotypeQuality
all individuals: 2239
bin: 6.75e1
variant carriers: 642

GenotypeQuality
all individuals: 1957
bin: 8.25e1
variant carriers: 590

GenotypeQuality
all individuals: 1568
bin: 8.75e1
variant carriers: 678

GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 199

GenotypeQuality
all individuals: 41047
bin: 9.75e1
variant carriers: 32612

GenotypeQuality
all individuals: 2163
bin: 7.75e1
variant carriers: 780

European (Finnish)
type: Population
allele count: 2407
allele frequency: 3.690585709904937e-1
allele num: 6522
num of homozygotes: 393

Other
type: Population
allele count: 353
allele frequency: 3.984198645598194e-1
allele num: 886
num of homozygotes: 78

East Asian
type: Population
allele count: 6157
allele frequency: 7.377186676252097e-1
allele num: 8346
num of homozygotes: 2254

European (Non-Finnish)
type: Population
allele count: 24955
allele frequency: 3.832156019656019e-1
allele num: 65120
num of homozygotes: 4357

Latino
type: Population
allele count: 5213
allele frequency: 4.625554569653949e-1
allele num: 11270
num of homozygotes: 1085

African
type: Population
allele count: 2867
allele frequency: 2.973449491806679e-1
allele num: 9642
num of homozygotes: 394

South Asian
type: Population
allele count: 7710
allele frequency: 4.705810546875e-1
allele num: 16384
num of homozygotes: 1803

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.597e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.225e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.394e0

DP
type: SiteQuality
SIO_000300: 2.376507e6

GenotypeDepth
all individuals: 2629
bin: 5.25e1
variant carriers: 1539

GenotypeDepth
all individuals: 9044
bin: 2.75e1
variant carriers: 6135

GenotypeDepth
all individuals: 299
bin: 9.25e1
variant carriers: 190

GenotypeDepth
all individuals: 850
bin: 7.25e1
variant carriers: 626

GenotypeDepth
all individuals: 7881
bin: 3.75e1
variant carriers: 4878

GenotypeDepth
all individuals: 717
bin: 7.5e0
variant carriers: 297

GenotypeDepth
all individuals: 76
bin: 2.5e0
variant carriers: 21

GenotypeDepth
all individuals: 9402
bin: 3.25e1
variant carriers: 6054

GenotypeDepth
all individuals: 662
bin: 7.75e1
variant carriers: 502

GenotypeDepth
all individuals: 1026
bin: 6.75e1
variant carriers: 722

GenotypeDepth
all individuals: 3388
bin: 1.75e1
variant carriers: 3040

GenotypeDepth
all individuals: 7253
bin: 2.25e1
variant carriers: 5051

GenotypeDepth
all individuals: 428
bin: 8.75e1
variant carriers: 289

GenotypeDepth
all individuals: 5920
bin: 4.25e1
variant carriers: 3527

GenotypeDepth
all individuals: 1812
bin: 5.75e1
variant carriers: 1201

GenotypeDepth
all individuals: 563
bin: 8.25e1
variant carriers: 404

GenotypeDepth
all individuals: 1510
bin: 1.25e1
variant carriers: 1269

GenotypeDepth
all individuals: 1323
bin: 6.25e1
variant carriers: 894

GenotypeDepth
all individuals: 4041
bin: 4.75e1
variant carriers: 2320

GenotypeDepth
all individuals: 1871
bin: 9.75e1
variant carriers: 1203

GenotypeQuality
all individuals: 185
bin: 7.5e0
variant carriers: 133

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 464

GenotypeQuality
all individuals: 1790
bin: 9.25e1
variant carriers: 617

GenotypeQuality
all individuals: 286
bin: 2.5e0
variant carriers: 131

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 144

GenotypeQuality
all individuals: 584
bin: 2.25e1
variant carriers: 157

GenotypeQuality
all individuals: 322
bin: 3.25e1
variant carriers: 190

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 199

GenotypeQuality
all individuals: 499
bin: 4.75e1
variant carriers: 367

GenotypeQuality
all individuals: 3794
bin: 6.25e1
variant carriers: 663

GenotypeQuality
all individuals: 1634
bin: 7.25e1
variant carriers: 611

GenotypeQuality
all individuals: 41039
bin: 9.75e1
variant carriers: 32610

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 298

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 142

GenotypeQuality
all individuals: 397
bin: 3.75e1
variant carriers: 254

GenotypeQuality
all individuals: 2250
bin: 6.75e1
variant carriers: 646

GenotypeQuality
all individuals: 1568
bin: 8.75e1
variant carriers: 677

GenotypeQuality
all individuals: 2165
bin: 7.75e1
variant carriers: 784

GenotypeQuality
all individuals: 1954
bin: 8.25e1
variant carriers: 589

GenotypeQuality
all individuals: 621
bin: 5.25e1
variant carriers: 486

European (Non-Finnish)
type: Population
allele count: 24987
allele frequency: 3.825555759691346e-1
allele num: 65316
num of homozygotes: 4363

South Asian
type: Population
allele count: 7701
allele frequency: 4.702613580850025e-1
allele num: 16376
num of homozygotes: 1799

European (Finnish)
type: Population
allele count: 2403
allele frequency: 3.686713715863762e-1
allele num: 6518
num of homozygotes: 391

East Asian
type: Population
allele count: 6151
allele frequency: 7.36823191183517e-1
allele num: 8348
num of homozygotes: 2250

Other
type: Population
allele count: 355
allele frequency: 3.97982062780269e-1
allele num: 892
num of homozygotes: 79

African
type: Population
allele count: 2886
allele frequency: 2.947906026557712e-1
allele num: 9790
num of homozygotes: 394

Latino
type: Population
allele count: 5206
allele frequency: 4.618523775727466e-1
allele num: 11272
num of homozygotes: 1081

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 2.141e1

VQSLOD
type: SiteQuality
SIO_000300: -5.377e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.515e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.399e0

MQ
type: SiteQuality
SIO_000300: 5.195e1

DP
type: SiteQuality
SIO_000300: 2.368323e6