1-2430138-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430138
    reference: chr 1
allele count: 1
allele frequency: 3.10154456919546e-5
allele num: 32242
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-45G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-45G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.53G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-45G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-45G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-45G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-45G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-45G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-45G>C
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29296
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-2430143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430143
    reference: chr 1
allele count: 2
allele frequency: 5.915409642117716e-5
allele num: 33810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-40C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-40C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-40C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.58C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-40C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-40C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-40C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-40C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-40C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10883
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-2430145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430145
    reference: chr 1
allele count: 1
allele frequency: 2.842039447507531e-5
allele num: 35186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.60C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-38C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-2430148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430148
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430148
    reference: chr 1
allele count: 1
allele frequency: 2.682835220260772e-5
allele num: 37274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-35T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.63T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-35T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-35T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-35T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-35T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-35T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-35T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-35T>C
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33124
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-2430152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430152
    reference: chr 1
allele count: 3
allele frequency: 7.494753672429299e-5
allele num: 40028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-31C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-31C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-31C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-31C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-31C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-31C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.67C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-31C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-31C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-2430161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430161
    reference: chr 1
allele count: 1
allele frequency: 2.088816476584367e-5
allele num: 47874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-22C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.76C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-22C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-22C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-22C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-22C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-22C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-22C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-22C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-2430162-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430163
    reference: chr 1
allele count: 14
allele frequency: 2.853532265296971e-4
allele num: 49062
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-16dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-16dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-16dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-16dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-16dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-16dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-16dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.82dupC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-16dupC
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10119
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31543
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-2430168-ACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430165
    reference: chr 1
allele count: 3
allele frequency: 5.286343612334802e-5
allele num: 56750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-12_2350-10delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-12_2269-10delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-12_2242-10delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-12_867-10delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-12_2723-10delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-12_1817-10delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-12_214-10delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.86_88delCCT
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-12_2350-10delCCT
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: ACTC
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-2430171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430171
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 60704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-12C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-12C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-12C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-12C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.86C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-12C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-12C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-12C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-12C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27494
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-2430175-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430175
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430175
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 65936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.214-8T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2242-8T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2350-8T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2723-8T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1817-8T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2269-8T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.90T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2350-8T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.867-8T>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25374
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2269-8T>C
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-2430188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430188
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430188
    reference: chr 1
allele count: 19
allele frequency: 2.415766052129688e-4
allele num: 78650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2728C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.103C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.219C>T
  hgvsp: ENST00000288766.5:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.872C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2247C>T
  hgvsp: ENST00000378488.3:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2274C>T
  hgvsp: ENST00000449969.1:c.2274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1822C>T
  hgvsp: ENST00000278878.6:c.1822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2355C>T
  hgvsp: ENST00000419816.2:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2355C>T
  hgvsp: ENST00000378486.3:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25589
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile758Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-2430189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430189
    reference: chr 1
allele count: 1
allele frequency: 1.247318265728683e-5
allele num: 80172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2356G>A
  hgvsp: ENSP00000367747.3:p.Asp786Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2275G>A
  hgvsp: ENSP00000397289.1:p.Asp759Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.220G>A
  hgvsp: ENSP00000288766.5:p.Asp74Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.104G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1823G>A
  hgvsp: ENSP00000278878.6:p.Asp609Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.873G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2729G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2248G>A
  hgvsp: ENSP00000367749.3:p.Asp750Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2356G>A
  hgvsp: ENSP00000389803.2:p.Asp786Asn
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp759Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-2430189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430189
    reference: chr 1
allele count: 1
allele frequency: 1.247318265728683e-5
allele num: 80172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1823G>T
  hgvsp: ENSP00000278878.6:p.Asp609Tyr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2356G>T
  hgvsp: ENSP00000389803.2:p.Asp786Tyr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2356G>T
  hgvsp: ENSP00000367747.3:p.Asp786Tyr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.104G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2275G>T
  hgvsp: ENSP00000397289.1:p.Asp759Tyr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.873G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2248G>T
  hgvsp: ENSP00000367749.3:p.Asp750Tyr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.220G>T
  hgvsp: ENSP00000288766.5:p.Asp74Tyr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2729G>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp759Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-2430214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430214
    reference: chr 1
allele count: 1
allele frequency: 1.066007163568139e-5
allele num: 93808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2381T>C
  hgvsp: ENSP00000389803.2:p.Ile794Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2381T>C
  hgvsp: ENSP00000367747.3:p.Ile794Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2300T>C
  hgvsp: ENSP00000397289.1:p.Ile767Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.129T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.245T>C
  hgvsp: ENSP00000288766.5:p.Ile82Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2273T>C
  hgvsp: ENSP00000367749.3:p.Ile758Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.898T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1848T>C
  hgvsp: ENSP00000278878.6:p.Ile617Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2754T>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13971
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile767Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-2430223-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430223
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430223
    reference: chr 1
allele count: 2
allele frequency: 2.095601332802448e-5
allele num: 95438
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2309C>G
  hgvsp: ENSP00000397289.1:p.Pro770Arg
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2763C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2390C>G
  hgvsp: ENSP00000389803.2:p.Pro797Arg
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1857C>G
  hgvsp: ENSP00000278878.6:p.Pro620Arg
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.138C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.907C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2390C>G
  hgvsp: ENSP00000367747.3:p.Pro797Arg
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2282C>G
  hgvsp: ENSP00000367749.3:p.Pro761Arg
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.254C>G
  hgvsp: ENSP00000288766.5:p.Pro85Arg
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro770Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-2430228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430228
    reference: chr 1
allele count: 2
allele frequency: 2.081555338148665e-5
allele num: 96082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.259G>A
  hgvsp: ENSP00000288766.5:p.Asp87Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2314G>A
  hgvsp: ENSP00000397289.1:p.Asp772Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2287G>A
  hgvsp: ENSP00000367749.3:p.Asp763Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2395G>A
  hgvsp: ENSP00000367747.3:p.Asp799Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.143G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2395G>A
  hgvsp: ENSP00000389803.2:p.Asp799Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.912G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2768G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1862G>A
  hgvsp: ENSP00000278878.6:p.Asp622Asn
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31452
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp772Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-2430234-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430234
    reference: chr 1
allele count: 1
allele frequency: 1.041406315087895e-5
allele num: 96024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1868A>T
  hgvsp: ENSP00000278878.6:p.Ser624Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2401A>T
  hgvsp: ENSP00000367747.3:p.Ser801Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.149A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2293A>T
  hgvsp: ENSP00000367749.3:p.Ser765Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2774A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.265A>T
  hgvsp: ENSP00000288766.5:p.Ser89Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2320A>T
  hgvsp: ENSP00000397289.1:p.Ser774Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2401A>T
  hgvsp: ENSP00000389803.2:p.Ser801Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.918A>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser774Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-2430249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430249
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430249
    reference: chr 1
allele count: 2
allele frequency: 2.113718030014796e-5
allele num: 94620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2416C>T
  hgvsp: ENSP00000367747.3:p.Arg806Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1883C>T
  hgvsp: ENSP00000278878.6:p.Arg629Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.280C>T
  hgvsp: ENSP00000288766.5:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2416C>T
  hgvsp: ENSP00000389803.2:p.Arg806Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2789C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2308C>T
  hgvsp: ENSP00000367749.3:p.Arg770Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.933C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2335C>T
  hgvsp: ENSP00000397289.1:p.Arg779Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.164C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27607
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg779Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-2430250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430250
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430250
    reference: chr 1
allele count: 9
allele frequency: 9.517766497461929e-5
allele num: 94560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.165G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.934G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2790G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2336G>A
  hgvsp: ENSP00000397289.1:p.Arg779His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.281G>A
  hgvsp: ENSP00000288766.5:p.Arg94His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2309G>A
  hgvsp: ENSP00000367749.3:p.Arg770His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1884G>A
  hgvsp: ENSP00000278878.6:p.Arg629His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2417G>A
  hgvsp: ENSP00000389803.2:p.Arg806His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2417G>A
  hgvsp: ENSP00000367747.3:p.Arg806His
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27430
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg779His
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-2430251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430251
    reference: chr 1
allele count: 151
allele frequency: 1.605358281947693e-3
allele num: 94060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2418C>T
  hgvsp: ENST00000419816.2:c.2418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.282C>T
  hgvsp: ENST00000288766.5:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2337C>T
  hgvsp: ENST00000449969.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2791C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2310C>T
  hgvsp: ENST00000378488.3:c.2310C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1885C>T
  hgvsp: ENST00000278878.6:c.1885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.166C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.935C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2418C>T
  hgvsp: ENST00000378486.3:c.2418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12268
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 26564
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30443
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg779Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-2430252-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430252
    reference: chr 1
allele count: 1
allele frequency: 1.063060764553302e-5
allele num: 94068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1886G>C
  hgvsp: ENSP00000278878.6:p.Val630Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2419G>C
  hgvsp: ENSP00000367747.3:p.Val807Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2419G>C
  hgvsp: ENSP00000389803.2:p.Val807Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.936G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2338G>C
  hgvsp: ENSP00000397289.1:p.Val780Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2311G>C
  hgvsp: ENSP00000367749.3:p.Val771Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.167G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.283G>C
  hgvsp: ENSP00000288766.5:p.Val95Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2792G>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val780Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-2430256-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430256
    reference: chr 1
allele count: 1
allele frequency: 1.077330805197044e-5
allele num: 92822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2796T>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.287T>G
  hgvsp: ENSP00000288766.5:p.Val96Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.940T>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2315T>G
  hgvsp: ENSP00000367749.3:p.Val772Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2423T>G
  hgvsp: ENSP00000389803.2:p.Val808Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2342T>G
  hgvsp: ENSP00000397289.1:p.Val781Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1890T>G
  hgvsp: ENSP00000278878.6:p.Val631Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2423T>G
  hgvsp: ENSP00000367747.3:p.Val808Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.171T>G
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val781Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

1-2430257-GGAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430254
    reference: chr 1
allele count: 1
allele frequency: 1.08937208592967e-5
allele num: 91796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2428_2430delGAC
  hgvsp: ENSP00000389803.2:p.Asp810del
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1895_1897delGAC
  hgvsp: ENSP00000278878.6:p.Asp633del
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.176_178delGAC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2320_2322delGAC
  hgvsp: ENSP00000367749.3:p.Asp774del
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2428_2430delGAC
  hgvsp: ENSP00000367747.3:p.Asp810del
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2347_2349delGAC
  hgvsp: ENSP00000397289.1:p.Asp783del
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.945_947delGAC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2801_2803delGAC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.292_294delGAC
  hgvsp: ENSP00000288766.5:p.Asp98del
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23146
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp783del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: GGAC
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-2430260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430260
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430260
    reference: chr 1
allele count: 3
allele frequency: 3.277972027972028e-5
allele num: 91520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2319C>T
  hgvsp: ENST00000378488.3:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2346C>T
  hgvsp: ENST00000449969.1:c.2346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2427C>T
  hgvsp: ENST00000419816.2:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1894C>T
  hgvsp: ENST00000278878.6:c.1894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.175C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.291C>T
  hgvsp: ENST00000288766.5:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2800C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2427C>T
  hgvsp: ENST00000378486.3:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.944C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp782Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-2430261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430261
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430261
    reference: chr 1
allele count: 3
allele frequency: 3.295689238476073e-5
allele num: 91028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.176G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2320G>A
  hgvsp: ENSP00000367749.3:p.Asp774Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.292G>A
  hgvsp: ENSP00000288766.5:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2428G>A
  hgvsp: ENSP00000367747.3:p.Asp810Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2428G>A
  hgvsp: ENSP00000389803.2:p.Asp810Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.945G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2801G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2347G>A
  hgvsp: ENSP00000397289.1:p.Asp783Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1895G>A
  hgvsp: ENSP00000278878.6:p.Asp633Asn
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp783Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

1-2430266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430266
    reference: chr 1
allele count: 2
allele frequency: 2.232043212356591e-5
allele num: 89604
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2352C>T
  hgvsp: ENST00000449969.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2433C>T
  hgvsp: ENST00000378486.3:c.2433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1900C>T
  hgvsp: ENST00000278878.6:c.1900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2325C>T
  hgvsp: ENST00000378488.3:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2433C>T
  hgvsp: ENST00000419816.2:c.2433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.297C>T
  hgvsp: ENST00000288766.5:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.181C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.950C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2806C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2352C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-2430280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430280
    reference: chr 1
allele count: 1
allele frequency: 1.197203333014079e-5
allele num: 83528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+13C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+13C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-2430281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430281
    reference: chr 1
allele count: 3
allele frequency: 3.60317079029546e-5
allele num: 83260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+14G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+14G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15651
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

1-2430283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430283
    reference: chr 1
allele count: 3
allele frequency: 3.619953181938847e-5
allele num: 82874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+16G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+16G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19902
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-2430284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430284
    reference: chr 1
allele count: 1
allele frequency: 1.214830652607027e-5
allele num: 82316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+17G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+17G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-2430288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430288
    reference: chr 1
allele count: 2
allele frequency: 2.478499020992887e-5
allele num: 80694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+21C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+21C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-2430289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430289
    reference: chr 1
allele count: 245
allele frequency: 3.075339542590315e-3
allele num: 79666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+22G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+22G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21586
  bin: 1.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-2430295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430295
    reference: chr 1
allele count: 1
allele frequency: 1.287796837170968e-5
allele num: 77652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+28C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+28C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4843
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-2430297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430297
    reference: chr 1
allele count: 2
allele frequency: 2.609943886206447e-5
allele num: 76630
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+30T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+30T>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21988
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-2430309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430309
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430309
    reference: chr 1
allele count: 1
allele frequency: 1.463828790584653e-5
allele num: 68314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+42C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+42C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20431
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-2430310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430310
    reference: chr 1
allele count: 1
allele frequency: 1.475492076607549e-5
allele num: 67774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+43T>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+43T>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20741
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21781
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-2430313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430313
    reference: chr 1
allele count: 1
allele frequency: 1.539882968894364e-5
allele num: 64940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+46G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+46G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17805
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

1-2430313-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430313
    reference: chr 1
allele count: 1
allele frequency: 1.539882968894364e-5
allele num: 64940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+46G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+46G>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17805
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21658
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-2430313-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430313
    reference: chr 1
allele count: 1
allele frequency: 1.539882968894364e-5
allele num: 64940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+46G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+46G>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17805
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-2430314-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430314
    reference: chr 1
allele count: 2
allele frequency: 3.097701505482932e-5
allele num: 64564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+47G>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21807
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-2430314-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430314
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 64564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+47G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+47G>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21807
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-2430316-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430316
    reference: chr 1
allele count: 4
allele frequency: 6.827103601297149e-5
allele num: 58590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+49G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+49G>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22315
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7277
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-2430316-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430316
    reference: chr 1
allele count: 1
allele frequency: 1.706775900324287e-5
allele num: 58590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+49G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+49G>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5368
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

1-2430317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430317
    reference: chr 1
allele count: 1
allele frequency: 1.694570595811022e-5
allele num: 59012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.182+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2807+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1901+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2434+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2326+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.951+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.298+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2353+50G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2434+50G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-2430479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430479
    reference: chr 1
allele count: 2
allele frequency: 3.179549139931957e-5
allele num: 62902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-44C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-44C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21841
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum

1-2430485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430485
    reference: chr 1
allele count: 1
allele frequency: 1.553180914512922e-5
allele num: 64384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-38C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-38C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-2430491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430491
    reference: chr 1
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-32A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-32A>G
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16415
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-2430495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430495
    reference: chr 1
allele count: 2
allele frequency: 3.010959894014212e-5
allele num: 66424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-28G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15913
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-2430496-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430496
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430496
    reference: chr 1
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-27A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-27A>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-2430499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430499
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430499
    reference: chr 1
allele count: 1
allele frequency: 1.485310281317767e-5
allele num: 67326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-24C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-24C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-2430509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430509
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430509
    reference: chr 1
allele count: 3
allele frequency: 4.240642315956124e-5
allele num: 70744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-14C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-14C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21756
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-2430510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430510
    reference: chr 1
allele count: 12
allele frequency: 1.675228947956221e-4
allele num: 71632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-13G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-13G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21470
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12477
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-2430516-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430515
    reference: chr 1
allele count: 1
allele frequency: 1.326541441154622e-5
allele num: 75384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-3delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-3delC
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20440
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2354-3delC
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: TC
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-2430519-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430519
    reference: chr 1
allele count: 2
allele frequency: 2.585449092507368e-5
allele num: 77356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-4C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-4C>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19142
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19652
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2354-4C>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-2430521-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430521
    reference: chr 1
allele count: 4
allele frequency: 5.040322580645161e-5
allele num: 79360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2808-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2354-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1902-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2435-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.183-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.952-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.299-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2327-2A>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2435-2A>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20521
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2354-2A>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-2430531-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430531
    reference: chr 1
allele count: 1
allele frequency: 1.166643333799991e-5
allele num: 85716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2362C>A
  hgvsp: ENSP00000397289.1:p.Pro788Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2816C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2335C>A
  hgvsp: ENSP00000367749.3:p.Pro779Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2443C>A
  hgvsp: ENSP00000367747.3:p.Pro815Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1910C>A
  hgvsp: ENSP00000278878.6:p.Pro638Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.307C>A
  hgvsp: ENSP00000288766.5:p.Pro103Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.191C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2443C>A
  hgvsp: ENSP00000389803.2:p.Pro815Thr
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.960C>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro788Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-2430535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430535
    reference: chr 1
allele count: 1
allele frequency: 1.129917967955526e-5
allele num: 88502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1914C>T
  hgvsp: ENSP00000278878.6:p.Thr639Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.964C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2447C>T
  hgvsp: ENSP00000389803.2:p.Thr816Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2447C>T
  hgvsp: ENSP00000367747.3:p.Thr816Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2366C>T
  hgvsp: ENSP00000397289.1:p.Thr789Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2339C>T
  hgvsp: ENSP00000367749.3:p.Thr780Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.311C>T
  hgvsp: ENSP00000288766.5:p.Thr104Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2820C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.195C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr789Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

1-2430545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430545
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430545
    reference: chr 1
allele count: 1
allele frequency: 1.057060104437538e-5
allele num: 94602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1924G>A
  hgvsp: ENST00000278878.6:c.1924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2830G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2376G>A
  hgvsp: ENST00000449969.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.974G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.321G>A
  hgvsp: ENST00000288766.5:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.205G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2457G>A
  hgvsp: ENST00000378486.3:c.2457G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2349G>A
  hgvsp: ENST00000378488.3:c.2349G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2457G>A
  hgvsp: ENST00000419816.2:c.2457G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu792Glu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-2430557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430557
    reference: chr 1
allele count: 1
allele frequency: 9.979840721742082e-6
allele num: 100202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2469C>T
  hgvsp: ENST00000378486.3:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2469C>T
  hgvsp: ENST00000419816.2:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.217C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2388C>T
  hgvsp: ENST00000449969.1:c.2388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1936C>T
  hgvsp: ENST00000278878.6:c.1936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.333C>T
  hgvsp: ENST00000288766.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.986C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2361C>T
  hgvsp: ENST00000378488.3:c.2361C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2842C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe796Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-2430561-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430561
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430561
    reference: chr 1
allele count: 25
allele frequency: 2.45078817347659e-4
allele num: 102008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.990G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2473G>T
  hgvsp: ENSP00000389803.2:p.Val825Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1940G>T
  hgvsp: ENSP00000278878.6:p.Val648Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2392G>T
  hgvsp: ENSP00000397289.1:p.Val798Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2365G>T
  hgvsp: ENSP00000367749.3:p.Val789Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.337G>T
  hgvsp: ENSP00000288766.5:p.Val113Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2473G>T
  hgvsp: ENSP00000367747.3:p.Val825Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.221G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2846G>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32560
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9469
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val798Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-2430571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430571
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430571
    reference: chr 1
allele count: 1
allele frequency: 9.376289239770469e-6
allele num: 106652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.231C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2856C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2402C>T
  hgvsp: ENSP00000397289.1:p.Pro801Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2483C>T
  hgvsp: ENSP00000367747.3:p.Pro828Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1000C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1950C>T
  hgvsp: ENSP00000278878.6:p.Pro651Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2375C>T
  hgvsp: ENSP00000367749.3:p.Pro792Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.347C>T
  hgvsp: ENSP00000288766.5:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2483C>T
  hgvsp: ENSP00000389803.2:p.Pro828Leu
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro801Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-2430572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430572
    reference: chr 1
allele count: 12
allele frequency: 1.11646601291379e-4
allele num: 107482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.348G>A
  hgvsp: ENST00000288766.5:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2376G>A
  hgvsp: ENST00000378488.3:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2484G>A
  hgvsp: ENST00000419816.2:c.2484G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2484G>A
  hgvsp: ENST00000378486.3:c.2484G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2403G>A
  hgvsp: ENST00000449969.1:c.2403G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1001G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.232G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1951G>A
  hgvsp: ENST00000278878.6:c.1951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2857G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34353
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro801Pro
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

1-2430578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430578
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430578
    reference: chr 1
allele count: 2
allele frequency: 1.831770222743259e-5
allele num: 109184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.238C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2863C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2490C>T
  hgvsp: ENST00000378486.3:c.2490C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2382C>T
  hgvsp: ENST00000378488.3:c.2382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.354C>T
  hgvsp: ENST00000288766.5:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2490C>T
  hgvsp: ENST00000419816.2:c.2490C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1957C>T
  hgvsp: ENST00000278878.6:c.1957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1007C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2409C>T
  hgvsp: ENST00000449969.1:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile803Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-2430580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430580
    reference: chr 1
allele count: 2
allele frequency: 1.819471989228726e-5
allele num: 109922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1009C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.356C>T
  hgvsp: ENSP00000288766.5:p.Ala119Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2492C>T
  hgvsp: ENSP00000389803.2:p.Ala831Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1959C>T
  hgvsp: ENSP00000278878.6:p.Ala654Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2411C>T
  hgvsp: ENSP00000397289.1:p.Ala804Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2865C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2384C>T
  hgvsp: ENSP00000367749.3:p.Ala795Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2492C>T
  hgvsp: ENSP00000367747.3:p.Ala831Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.240C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34593
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala804Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-2430584-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430584
    reference: chr 1
allele count: 1
allele frequency: 8.979078746520608e-6
allele num: 111370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2869G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.244G>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2415G>T
  hgvsp: ENST00000449969.1:c.2415G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1963G>T
  hgvsp: ENST00000278878.6:c.1963G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2496G>T
  hgvsp: ENST00000419816.2:c.2496G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2496G>T
  hgvsp: ENST00000378486.3:c.2496G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.360G>T
  hgvsp: ENST00000288766.5:c.360G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2388G>T
  hgvsp: ENST00000378488.3:c.2388G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1013G>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu805Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-2430585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430585
    reference: chr 1
allele count: 2
allele frequency: 1.792146812666894e-5
allele num: 111598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.361G>A
  hgvsp: ENSP00000288766.5:p.Val121Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2497G>A
  hgvsp: ENSP00000389803.2:p.Val833Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2416G>A
  hgvsp: ENSP00000397289.1:p.Val806Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2389G>A
  hgvsp: ENSP00000367749.3:p.Val797Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1964G>A
  hgvsp: ENSP00000278878.6:p.Val656Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2497G>A
  hgvsp: ENSP00000367747.3:p.Val833Ile
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1014G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2870G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.245G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val806Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-2430586-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430586
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430585
    reference: chr 1
allele count: 1
allele frequency: 8.947104716913606e-6
allele num: 111768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.248delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1017delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2500delC
  hgvsp: ENSP00000389803.2:p.Arg834AlafsTer25
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2873delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2500delC
  hgvsp: ENSP00000367747.3:p.Arg834AlafsTer25
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.364delC
  hgvsp: ENSP00000288766.5:p.Arg122AlafsTer25
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2392delC
  hgvsp: ENSP00000367749.3:p.Arg798AlafsTer25
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2419delC
  hgvsp: ENSP00000397289.1:p.Arg807AlafsTer25
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1967delC
  hgvsp: ENSP00000278878.6:p.Arg657AlafsTer25
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg807AlafsTer25
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-2430588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430588
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430588
    reference: chr 1
allele count: 2
allele frequency: 1.783198701831345e-5
allele num: 112158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2392C>T
  hgvsp: ENSP00000367749.3:p.Arg798Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1967C>T
  hgvsp: ENSP00000278878.6:p.Arg657Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.364C>T
  hgvsp: ENSP00000288766.5:p.Arg122Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2500C>T
  hgvsp: ENSP00000389803.2:p.Arg834Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.248C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1017C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2419C>T
  hgvsp: ENSP00000397289.1:p.Arg807Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2500C>T
  hgvsp: ENSP00000367747.3:p.Arg834Cys
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2873C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg807Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-2430589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430589
    reference: chr 1
allele count: 1
allele frequency: 8.887782853689319e-6
allele num: 112514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2501G>A
  hgvsp: ENSP00000389803.2:p.Arg834His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1968G>A
  hgvsp: ENSP00000278878.6:p.Arg657His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.365G>A
  hgvsp: ENSP00000288766.5:p.Arg122His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2874G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.249G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2393G>A
  hgvsp: ENSP00000367749.3:p.Arg798His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1018G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2501G>A
  hgvsp: ENSP00000367747.3:p.Arg834His
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2420G>A
  hgvsp: ENSP00000397289.1:p.Arg807His
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35325
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg807His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-2430596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2430596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2430596
    reference: chr 1
allele count: 2
allele frequency: 1.754816972589759e-5
allele num: 113972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.2400C>T
  hgvsp: ENST00000378488.3:c.2400C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.2508C>T
  hgvsp: ENST00000419816.2:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000462379
  gene symbol: PLCH2
  hgvsc: ENST00000462379.1:n.256C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.372C>T
  hgvsp: ENST00000288766.5:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000343889
  gene symbol: PLCH2
  hgvsc: ENST00000343889.4:n.2881C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000278878
  ensembl transcript: ENST00000278878
  gene symbol: PLCH2
  hgvsc: ENST00000278878.6:c.1975C>T
  hgvsp: ENST00000278878.6:c.1975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.2427C>T
  hgvsp: ENST00000449969.1:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.2508C>T
  hgvsp: ENST00000378486.3:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149527
  ensembl transcript: ENST00000473964
  gene symbol: PLCH2
  hgvsc: ENST00000473964.1:n.1025C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu809Leu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.35970490969219e-5
allele num: 15724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

DP
type: SiteQuality
SIO_000300: 5.89332e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.399e1

GenotypeQuality
all individuals: 1374
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2754
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.34001336005344e-4
allele num: 2994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.986590038314176e-5
allele num: 16704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.16425e5

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.690871841566128e-5
allele num: 17572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 3.979e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 6.34933e5

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
all individuals: 1010
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7540
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2407
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.294927459493805e-5
allele num: 18886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

DP
type: SiteQuality
SIO_000300: 6.58909e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.08e-1

FS
type: SiteQuality
SIO_000300: 1.036e1

VQSLOD
type: SiteQuality
SIO_000300: -1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 6.011e1

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33039
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.454898157129001e-4
allele num: 20620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 3.597e0

MQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 6.88062e5

GenotypeQuality
all individuals: 2457
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31779
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 7.54939e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.282e1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11414
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 4.127358490566038e-3
allele num: 3392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.057e1

QD
type: SiteQuality
SIO_000300: 1.348e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 1.929e0

DP
type: SiteQuality
SIO_000300: 7.6528e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

GenotypeQuality
all individuals: 550
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 3
allele frequency: 2.937145094967691e-4
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 8.29754e5

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

MQ
type: SiteQuality
SIO_000300: 5.662e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

FS
type: SiteQuality
SIO_000300: 2.708e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
SIO_000300: 6.78e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.981e-1

DP
type: SiteQuality
SIO_000300: 8.65007e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36828
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.08803e5

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.014e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

QD
type: SiteQuality
SIO_000300: 9.1e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 18

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 825
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.590986623574827e-4
allele num: 44556
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.265839320705421e-4
allele num: 6124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3124
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.461560947091494e-4
allele num: 6842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.020988e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 3.117e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 1492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.199832812706234e-5
allele num: 45458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.033956e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 1.3815e1

VQSLOD
type: SiteQuality
SIO_000300: -1.884e0

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
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GenotypeQuality
all individuals: 1434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.199832812706234e-5
allele num: 45458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.033956e6

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.884e0

FS
type: SiteQuality
SIO_000300: 1.3815e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.877934272300469e-5
allele num: 53250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.153434e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

FS
type: SiteQuality
SIO_000300: 2.711e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 215
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7168
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.693989878467733e-5
allele num: 54142
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.518602885345482e-4
allele num: 13170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 1.171805e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837019619369535e-5
allele num: 54436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.195e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 1.623e0

DP
type: SiteQuality
SIO_000300: 1.168786e6

QD
type: SiteQuality
SIO_000300: 7.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 551
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.729951510630362e-5
allele num: 53620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
SIO_000300: 5.42e0

FS
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.654e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.141083e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.524157902758726e-4
allele num: 13122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.119904434821562e-4
allele num: 53576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.424830261881668e-4
allele num: 4124
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.726e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.608e0

QD
type: SiteQuality
SIO_000300: 7.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.138268e6

GenotypeQuality
all individuals: 598
bin: 9.75e1
variant carriers: 145

GenotypeQuality
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bin: 6.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.641754546843955e-5
allele num: 13086
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.588153115395362e-4
allele num: 7158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.899559039686428e-4
allele num: 4082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 142
allele frequency: 2.663465506246014e-3
allele num: 53314
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.299908003679853e-4
allele num: 8696
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 1.136e0

DP
type: SiteQuality
SIO_000300: 1.13008e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

GenotypeQuality
all individuals: 739
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 480
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 281
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GenotypeQuality
all individuals: 176
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53298
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.417635384179189e-4
allele num: 7054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13094
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 7.81e0

FS
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.129425e6

VQSLOD
type: SiteQuality
SIO_000300: -3.275e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.46e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.9014298752662e-5
allele num: 52592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -6.505e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 1.104302e6

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.462843768285547e-4
allele num: 6836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12886
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 1.085906e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 174
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GenotypeQuality
all individuals: 459
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variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 7.767593599502873e-5
allele num: 12874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.857280617164898e-5
allele num: 51850
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

QD
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SIO_000300: 1.105e1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.876720294630743e-5
allele num: 51590
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12828
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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.43348623853211e-4
allele num: 6976
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.071802e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 1.07e-1

InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.629e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.938868756893021e-5
allele num: 50776
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.040415e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

QD
type: SiteQuality
SIO_000300: 1.211e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.156606851549755e-5
allele num: 12260
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.352e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

DP
type: SiteQuality
SIO_000300: 9.06862e5

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.117029384367855e-5
allele num: 47236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.857142857142857e-4
allele num: 3500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.167265599477295e-5
allele num: 12244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.073e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3458
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.376737661012626e-5
allele num: 47046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

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

Latino
type: Population
allele count: 1
allele frequency: 1.40686550365785e-4
allele num: 7108
num of homozygotes: 0

European (Finnish)
type: Population
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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African
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Other
type: Population
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.881844380403458e-4
allele num: 6940
num of homozygotes: 0

East Asian
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allele count: 0
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

African
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allele count: 6
allele frequency: 9.708737864077669e-4
allele num: 6180
num of homozygotes: 0

Latino
type: Population
allele count: 35
allele frequency: 5.168340224453632e-3
allele num: 6772
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 14
allele frequency: 4.31832202344232e-3
allele num: 3242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 188
allele frequency: 4.151576715837824e-3
allele num: 45284
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.672240802675585e-4
allele num: 11960
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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FS
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VQSLOD
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 8.43582e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

GenotypeQuality
all individuals: 456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4739
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.465966813410092e-5
allele num: 11812
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 8.12409e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4629
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.596644449551827e-5
allele num: 43510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 8.00847e5

FS
type: SiteQuality
SIO_000300: 5.619e0

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

QD
type: SiteQuality
SIO_000300: 1.305e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 677
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7340
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.57201646090535e-5
allele num: 38880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 6.41e0

DP
type: SiteQuality
SIO_000300: 7.51154e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.14e1

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
SIO_000300: -1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5123
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 745
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.595514950166113e-5
allele num: 38528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.771e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 7.48965e5

QD
type: SiteQuality
SIO_000300: 1.296e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4943
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5043
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4810
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.713998805840525e-5
allele num: 36846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

FS
type: SiteQuality
SIO_000300: 1.597e0

DP
type: SiteQuality
SIO_000300: 7.43852e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4943
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7650
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.235315847801995e-5
allele num: 10828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36846
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

FS
type: SiteQuality
SIO_000300: 1.597e0

DP
type: SiteQuality
SIO_000300: 7.43852e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
all individuals: 2567
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5043
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4943
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 928
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 806
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4810
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.318034306907742e-4
allele num: 4314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.597e0

DP
type: SiteQuality
SIO_000300: 7.43852e5

QD
type: SiteQuality
SIO_000300: 1.11e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 4822
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19087
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4904
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5080
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.847745750184775e-4
allele num: 10824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.43096e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

VQSLOD
type: SiteQuality
SIO_000300: -1.106e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.48e0

GenotypeQuality
all individuals: 3795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7681
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19087
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.43096e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.106e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 486
bin: 7.75e1
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GenotypeQuality
all individuals: 2619
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.578544061302682e-5
allele num: 10440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.066731141199227e-5
allele num: 33088
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.186e0

VQSLOD
type: SiteQuality
SIO_000300: -9.029e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.41142e5

GenotypeQuality
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.724795640326976e-4
allele num: 3670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 7.41142e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 2.186e0

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

African
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allele count: 1
allele frequency: 2.120441051738762e-4
allele num: 4716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.931e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

DP
type: SiteQuality
SIO_000300: 7.41644e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35334
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.051863857374392e-4
allele num: 4936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 7.36795e5

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.977066034005536e-4
allele num: 5058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

DP
type: SiteQuality
SIO_000300: 7.63183e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 1.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.55e-2

GenotypeQuality
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.217294900221729e-4
allele num: 4510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36808
num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.03e0

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

Latino
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allele count: 2
allele frequency: 3.536067892503536e-4
allele num: 5656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37270
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

East Asian
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allele count: 0
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Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.677232812165346e-5
allele num: 37352
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1071
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.645222727753677e-5
allele num: 37804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 6.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.902e0

DP
type: SiteQuality
SIO_000300: 8.16395e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.042037186742118e-4
allele num: 4948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.518130539887188e-5
allele num: 39712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.80522e5

GenotypeQuality
all individuals: 724
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 6.459948320413437e-4
allele num: 6192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.986491855383393e-4
allele num: 40272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5040
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 8.95144e5

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 1.003e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 7.72e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.358713086140202e-5
allele num: 42396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.931e0

QD
type: SiteQuality
SIO_000300: 1.101e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

DP
type: SiteQuality
SIO_000300: 9.45427e5

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 1.7825311942959e-4
allele num: 5610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.295684113865932e-5
allele num: 43560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.751e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

DP
type: SiteQuality
SIO_000300: 9.71274e5

FS
type: SiteQuality
SIO_000300: 7.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.927375797884212e-5
allele num: 44806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7080
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.67e-1

DP
type: SiteQuality
SIO_000300: 9.93155e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48446
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.192692118630181e-5
allele num: 12206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.16e-1

DP
type: SiteQuality
SIO_000300: 1.064605e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.997203914519673e-5
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 618
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.41282848262221e-4
allele num: 7078
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.617e0

DP
type: SiteQuality
SIO_000300: 1.159172e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.612e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.770600941959701e-5
allele num: 56478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

MQ
type: SiteQuality
SIO_000300: 5.782e1

DP
type: SiteQuality
SIO_000300: 1.22467e6

QD
type: SiteQuality
SIO_000300: 1.773e1

FS
type: SiteQuality
SIO_000300: 8.640000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.701e0

GenotypeQuality
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GenotypeQuality
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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: 23

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

Other
type: Population
allele count: 1
allele frequency: 1.424501424501425e-3
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 3.316426063207179e-3
allele num: 5126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.218620521569583e-4
allele num: 57442
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 3.676e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

DP
type: SiteQuality
SIO_000300: 1.246008e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1206
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59866
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.241927471435668e-4
allele num: 8052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.305465e6

FS
type: SiteQuality
SIO_000300: 9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 1.146e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2002
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GenotypeQuality
all individuals: 1324
bin: 9.75e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.658704883227176e-4
allele num: 60288
num of homozygotes: 1

African
type: Population
allele count: 2
allele frequency: 2.466091245376079e-4
allele num: 8110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.31795e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.210946960523129e-4
allele num: 8258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635536946779628e-5
allele num: 61142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14628
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5726
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.337332e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.49e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.624800961882169e-5
allele num: 61546
num of homozygotes: 0

Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
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Latino
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allele count: 1
allele frequency: 9.457159069415548e-5
allele num: 10574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.135e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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BaseQRankSum
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SIO_000300: -2.078e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

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

South Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 1.606632177629254e-5
allele num: 62242
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Latino
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num of homozygotes: 0

European (Finnish)
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Other
type: Population
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allele num: 820
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
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allele frequency: 9.298865538404315e-5
allele num: 10754
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 820
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603592046183451e-5
allele num: 62360
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 4.454e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.369442e6

GenotypeQuality
all individuals: 686
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36996
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.281603861147207e-5
allele num: 10774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.006e1

DP
type: SiteQuality
SIO_000300: 1.371242e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.248e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.92e-1

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4482
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 425
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.194275857663068e-5
allele num: 62612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 3.236e1

DP
type: SiteQuality
SIO_000300: 1.378486e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

VQSLOD
type: SiteQuality
SIO_000300: -6.01e-1

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

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 750
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2403
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591748376416656e-5
allele num: 62824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.039e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.074e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.384598e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1