5-32089132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089132
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089132
    reference: chr 5
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5578A>G
  hgvsp: ENSP00000402033.1:p.Asn1860Asp
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5578A>G
  hgvsp: ENSP00000282493.3:p.Asn1860Asp
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1860
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn1860Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

5-32089136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089136
    reference: chr 5
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5582A>G
  hgvsp: ENSP00000402033.1:p.Lys1861Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5582A>G
  hgvsp: ENSP00000282493.3:p.Lys1861Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 310
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 248
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1861Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11536
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

5-32089143-G-GTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089143
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089146
    reference: chr 5
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: GTCT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5590_5592dupTCT
  hgvsp: ENSP00000402033.1:p.Ser1864dup
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5590_5592dupTCT
  hgvsp: ENSP00000282493.3:p.Ser1864dup
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1864dup
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16464
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-32089152-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089152
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089152
    reference: chr 5
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5598G>C
  hgvsp: ENSP00000402033.1:p.Lys1866Asn
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5598G>C
  hgvsp: ENSP00000282493.3:p.Lys1866Asn
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1866Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11532
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/5-32089156-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089156
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089156
    reference: chr 5
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5602C>A
  hgvsp: ENSP00000402033.1:p.Pro1868Thr
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5602C>A
  hgvsp: ENSP00000282493.3:p.Pro1868Thr
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47111
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1868Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10260
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

5-32089157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089157
    reference: chr 5
allele count: 2
allele frequency: 1.656918463042434e-5
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5603C>T
  hgvsp: ENSP00000282493.3:p.Pro1868Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5603C>T
  hgvsp: ENSP00000402033.1:p.Pro1868Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1868Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66320
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-32089158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089158
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089158
    reference: chr 5
allele count: 5
allele frequency: 4.142570713682082e-5
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5604G>A
  hgvsp: ENST00000438447.1:c.5604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5604G>A
  hgvsp: ENST00000282493.3:c.5604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 47092
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1868Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66312
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-32089161-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089161
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089161
    reference: chr 5
allele count: 13
allele frequency: 1.076925625859469e-4
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5607A>C
  hgvsp: ENST00000282493.3:c.5607A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5607A>C
  hgvsp: ENST00000438447.1:c.5607A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 247
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genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 6701
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 789
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1869Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8628
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-32089165-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089165
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089164
    reference: chr 5
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5612delT
  hgvsp: ENSP00000282493.3:p.Met1871SerfsTer3
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5612delT
  hgvsp: ENSP00000402033.1:p.Met1871SerfsTer3
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met1871SerfsTer3
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10254
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: AT
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

5-32089166-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089166
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089166
    reference: chr 5
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5612T>C
  hgvsp: ENSP00000402033.1:p.Met1871Thr
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5612T>C
  hgvsp: ENSP00000282493.3:p.Met1871Thr
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27711
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1871Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66298
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-32089168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089168
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089168
    reference: chr 5
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5614C>T
  hgvsp: ENSP00000402033.1:p.Leu1872Phe
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5614C>T
  hgvsp: ENSP00000282493.3:p.Leu1872Phe
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu1872Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16472
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

5-32089169-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089169
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089169
    reference: chr 5
allele count: 8
allele frequency: 6.629101756711965e-5
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5615T>A
  hgvsp: ENSP00000402033.1:p.Leu1872His
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5615T>A
  hgvsp: ENSP00000282493.3:p.Leu1872His
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu1872His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11536
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-32089173-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089173
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089173
    reference: chr 5
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5619G>C
  hgvsp: ENST00000282493.3:c.5619G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5619G>C
  hgvsp: ENST00000438447.1:c.5619G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1873Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

5-32089175-CTAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089175
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089172
    reference: chr 5
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5623_5625delAAT
  hgvsp: ENSP00000282493.3:p.Asn1875del
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5623_5625delAAT
  hgvsp: ENSP00000402033.1:p.Asn1875del
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1875del
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16470
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: CTAA
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-32089176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089176
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089176
    reference: chr 5
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5622T>C
  hgvsp: ENST00000438447.1:c.5622T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5622T>C
  hgvsp: ENST00000282493.3:c.5622T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6697
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1874Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16470
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

5-32089179-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089179
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089179
    reference: chr 5
allele count: 3
allele frequency: 2.485007123687088e-5
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5625T>C
  hgvsp: ENST00000282493.3:c.5625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5625T>C
  hgvsp: ENST00000438447.1:c.5625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 47100
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1875Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-32089185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089185
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089185
    reference: chr 5
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5631G>A
  hgvsp: ENST00000438447.1:c.5631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5631G>A
  hgvsp: ENST00000282493.3:c.5631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  bin: 8.75e1
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6696
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1877Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16476
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/5-32089190-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089190
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089190
    reference: chr 5
allele count: 8
allele frequency: 6.624381034397098e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5636C>A
  hgvsp: ENSP00000402033.1:p.Ala1879Glu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5636C>A
  hgvsp: ENSP00000282493.3:p.Ala1879Glu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 252
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23935
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1607
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 412
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1879Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 5
  allele frequency: 5.791058605513088e-4
  allele num: 8634
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-32089194-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089194
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089194
    reference: chr 5
allele count: 2
allele frequency: 1.65576620581174e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5640G>T
  hgvsp: ENSP00000402033.1:p.Lys1880Asn
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5640G>T
  hgvsp: ENSP00000282493.3:p.Lys1880Asn
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
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genotype depth: GenotypeDepth
  all individuals: 1015
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
hgvs: p.Lys1880Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10272
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

5-32089202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089202
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089202
    reference: chr 5
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5648C>T
  hgvsp: ENSP00000402033.1:p.Pro1883Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5648C>T
  hgvsp: ENSP00000282493.3:p.Pro1883Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 310
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hgvs: p.Pro1883Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10268
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-32089218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089218
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089218
    reference: chr 5
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5664C>T
  hgvsp: ENST00000438447.1:c.5664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5664C>T
  hgvsp: ENST00000282493.3:c.5664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
hgvs: p.Leu1888Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

5-32089229-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089229
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089229
    reference: chr 5
allele count: 6
allele frequency: 4.957284729910604e-5
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5675G>T
  hgvsp: ENSP00000282493.3:p.Gly1892Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5675G>T
  hgvsp: ENSP00000402033.1:p.Gly1892Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1892Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-32089238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089238
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089238
    reference: chr 5
allele count: 2
allele frequency: 1.65169133192389e-5
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5684A>G
  hgvsp: ENSP00000282493.3:p.Lys1895Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5684A>G
  hgvsp: ENSP00000402033.1:p.Lys1895Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23973
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys1895Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66542
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

5-32089240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089240
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089240
    reference: chr 5
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5686G>A
  hgvsp: ENSP00000282493.3:p.Val1896Ile
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5686G>A
  hgvsp: ENSP00000402033.1:p.Val1896Ile
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 307
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1106
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47509
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val1896Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

5-32089242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089242
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089242
    reference: chr 5
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5688C>T
  hgvsp: ENST00000282493.3:c.5688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5688C>T
  hgvsp: ENST00000438447.1:c.5688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28105
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 307
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1896Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10324
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-32089244-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089244
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089242
    reference: chr 5
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5693_5694delCT
  hgvsp: ENSP00000402033.1:p.Ser1898Ter
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5693_5694delCT
  hgvsp: ENSP00000282493.3:p.Ser1898Ter
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1898Ter
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10326
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: ACT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

5-32089252-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089252
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089252
    reference: chr 5
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5698G>T
  hgvsp: ENSP00000282493.3:p.Ala1900Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5698G>T
  hgvsp: ENSP00000402033.1:p.Ala1900Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23996
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47533
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1900Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

5-32089255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089255
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089255
    reference: chr 5
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5701C>T
  hgvsp: ENSP00000282493.3:p.Pro1901Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5701C>T
  hgvsp: ENSP00000402033.1:p.Pro1901Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1901Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

5-32089256-CTGCTGCGAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089256
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089247
    reference: chr 5
allele count: 104
allele frequency: 8.581849388543231e-4
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsp: ENSP00000282493.3:p.Ala1903_Ala1905del
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsp: ENSP00000402033.1:p.Ala1903_Ala1905del
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24020
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6715
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 9.75e1
  variant carriers: 102
hgvs: p.Ala1903_Ala1905del
num of homozygotes: 2
population: African
  type: Population
  allele count: 99
  allele frequency: 9.563369397217929e-3
  allele num: 10352
  num of homozygotes: 2
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CTGCTGCGAA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/5-32089262-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089262
    reference: chr 5
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5708C>A
  hgvsp: ENSP00000282493.3:p.Ala1903Glu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5708C>A
  hgvsp: ENSP00000402033.1:p.Ala1903Glu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47658
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1903Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10260
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

5-32089262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089262
    reference: chr 5
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5708C>T
  hgvsp: ENSP00000402033.1:p.Ala1903Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5708C>T
  hgvsp: ENSP00000282493.3:p.Ala1903Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 89
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 246
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
hgvs: p.Ala1903Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

5-32089262-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089262
    reference: chr 5
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5708C>G
  hgvsp: ENSP00000282493.3:p.Ala1903Gly
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5708C>G
  hgvsp: ENSP00000402033.1:p.Ala1903Gly
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 463
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
hgvs: p.Ala1903Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

5-32089263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089263
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089263
    reference: chr 5
allele count: 2
allele frequency: 1.651718613217052e-5
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5709G>A
  hgvsp: ENST00000438447.1:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5709G>A
  hgvsp: ENST00000282493.3:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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genotype depth: GenotypeDepth
  all individuals: 78
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 158
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 131
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1903Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66620
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-32089267-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089267
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089267
    reference: chr 5
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5713G>C
  hgvsp: ENSP00000282493.3:p.Ala1905Pro
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5713G>C
  hgvsp: ENSP00000402033.1:p.Ala1905Pro
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1905Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-32089270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089270
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089270
    reference: chr 5
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5716G>A
  hgvsp: ENSP00000402033.1:p.Val1906Met
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5716G>A
  hgvsp: ENSP00000282493.3:p.Val1906Met
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1906Met
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-32089279-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089279
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089279
    reference: chr 5
allele count: 3
allele frequency: 2.473737157181259e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5725G>C
  hgvsp: ENSP00000402033.1:p.Gly1909Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5725G>C
  hgvsp: ENSP00000282493.3:p.Gly1909Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 81
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 28202
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
hgvs: p.Gly1909Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

5-32089282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089282
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089282
    reference: chr 5
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5728G>A
  hgvsp: ENSP00000282493.3:p.Gly1910Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5728G>A
  hgvsp: ENSP00000402033.1:p.Gly1910Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 471
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gly1910Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.641548565502938e-5
  allele num: 11572
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

5-32089282-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089282
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089282
    reference: chr 5
allele count: 4
allele frequency: 3.297500494625074e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5728G>T
  hgvsp: ENSP00000402033.1:p.Gly1910Trp
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5728G>T
  hgvsp: ENSP00000282493.3:p.Gly1910Trp
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1910Trp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66676
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-32089284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089284
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089284
    reference: chr 5
allele count: 5
allele frequency: 4.12173970389422e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5730G>A
  hgvsp: ENST00000282493.3:c.5730G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5730G>A
  hgvsp: ENST00000438447.1:c.5730G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1910Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

5-32089286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089286
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089286
    reference: chr 5
allele count: 4
allele frequency: 3.29733740004946e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5732C>T
  hgvsp: ENSP00000402033.1:p.Thr1911Met
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5732C>T
  hgvsp: ENSP00000282493.3:p.Thr1911Met
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1911Met
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

5-32089287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089287
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089287
    reference: chr 5
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5733G>A
  hgvsp: ENST00000282493.3:c.5733G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5733G>A
  hgvsp: ENST00000438447.1:c.5733G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 310
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1911Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-32089298-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089298
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089298
    reference: chr 5
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5744A>C
  hgvsp: ENSP00000282493.3:p.Lys1915Thr
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5744A>C
  hgvsp: ENSP00000402033.1:p.Lys1915Thr
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1915Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/5-32089312-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089312
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089312
    reference: chr 5
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5758C>A
  hgvsp: ENSP00000402033.1:p.Pro1920Thr
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5758C>A
  hgvsp: ENSP00000282493.3:p.Pro1920Thr
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47894
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1920Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

5-32089313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089313
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089313
    reference: chr 5
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5759C>T
  hgvsp: ENSP00000402033.1:p.Pro1920Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5759C>T
  hgvsp: ENSP00000282493.3:p.Pro1920Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24169
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1920Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-32089324-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089324
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089324
    reference: chr 5
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5770C>A
  hgvsp: ENSP00000282493.3:p.His1924Asn
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5770C>A
  hgvsp: ENSP00000402033.1:p.His1924Asn
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.His1924Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-32089325-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089325
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089325
    reference: chr 5
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5771A>T
  hgvsp: ENSP00000402033.1:p.His1924Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5771A>T
  hgvsp: ENSP00000282493.3:p.His1924Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.His1924Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

5-32089345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089345
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089345
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5791G>A
  hgvsp: ENSP00000402033.1:p.Val1931Met
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5791G>A
  hgvsp: ENSP00000282493.3:p.Val1931Met
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24177
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genotype depth: GenotypeDepth
  all individuals: 256
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genotype depth: GenotypeDepth
  all individuals: 21
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 29
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genotype depth: GenotypeDepth
  all individuals: 56
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genotype depth: GenotypeDepth
  all individuals: 169
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genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 133
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1024
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1084
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1615
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1931Met
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-32089352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089352
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089352
    reference: chr 5
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5798A>G
  hgvsp: ENSP00000282493.3:p.Gln1933Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5798A>G
  hgvsp: ENSP00000402033.1:p.Gln1933Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 80
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 252
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  variant carriers: 0
hgvs: p.Gln1933Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

5-32089354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089354
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089354
    reference: chr 5
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5800C>T
  hgvsp: ENSP00000402033.1:p.Arg1934Trp
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5800C>T
  hgvsp: ENSP00000282493.3:p.Arg1934Trp
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
hgvs: p.Arg1934Trp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-32089359-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089359
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089359
    reference: chr 5
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5805C>G
  hgvsp: ENST00000438447.1:c.5805C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5805C>G
  hgvsp: ENST00000282493.3:c.5805C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1856
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hgvs: p.Leu1935Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.496133325340207e-5
  allele num: 66724
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-32089368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089368
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089368
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5814C>T
  hgvsp: ENST00000438447.1:c.5814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5814C>T
  hgvsp: ENST00000282493.3:c.5814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1024
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1938Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

5-32089369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089369
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089369
    reference: chr 5
allele count: 65
allele frequency: 5.354906742239504e-4
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5815G>A
  hgvsp: ENSP00000282493.3:p.Asp1939Asn
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5815G>A
  hgvsp: ENSP00000402033.1:p.Asp1939Asn
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
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genotype depth: GenotypeDepth
  all individuals: 58
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 311
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  variant carriers: 0
hgvs: p.Asp1939Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 63
  allele frequency: 5.441354292623942e-3
  allele num: 11578
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-32089369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089369
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089369
    reference: chr 5
allele count: 6
allele frequency: 4.942990838990312e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5815G>C
  hgvsp: ENSP00000402033.1:p.Asp1939His
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5815G>C
  hgvsp: ENSP00000282493.3:p.Asp1939His
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 311
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hgvs: p.Asp1939His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-32089373-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089373
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089373
    reference: chr 5
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5819A>G
  hgvsp: ENSP00000402033.1:p.His1940Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5819A>G
  hgvsp: ENSP00000282493.3:p.His1940Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.His1940Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-32089374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089374
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089374
    reference: chr 5
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5820C>T
  hgvsp: ENST00000438447.1:c.5820C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5820C>T
  hgvsp: ENST00000282493.3:c.5820C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His1940His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-32089375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089375
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089375
    reference: chr 5
allele count: 6
allele frequency: 4.94323518265254e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5821G>A
  hgvsp: ENSP00000402033.1:p.Glu1941Lys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5821G>A
  hgvsp: ENSP00000282493.3:p.Glu1941Lys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 85
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 253
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genotype quality: GenotypeQuality
  all individuals: 1846
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  variant carriers: 0
hgvs: p.Glu1941Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056935190793458e-5
  allele num: 16510
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

5-32089377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089377
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089377
    reference: chr 5
allele count: 15
allele frequency: 1.235829158977063e-4
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5823G>A
  hgvsp: ENST00000438447.1:c.5823G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5823G>A
  hgvsp: ENST00000282493.3:c.5823G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1149
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  variant carriers: 15
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Glu1941Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

5-32089380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089380
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089380
    reference: chr 5
allele count: 6
allele frequency: 4.943561011782154e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5826C>T
  hgvsp: ENST00000282493.3:c.5826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5826C>T
  hgvsp: ENST00000438447.1:c.5826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 30
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genotype depth: GenotypeDepth
  all individuals: 136
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1147
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  variant carriers: 6
hgvs: p.Asp1942Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/5-32089381-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089381
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089381
    reference: chr 5
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5827C>A
  hgvsp: ENSP00000282493.3:p.Pro1943Thr
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5827C>A
  hgvsp: ENSP00000402033.1:p.Pro1943Thr
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1943Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.637070305752289e-5
  allele num: 11578
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

5-32089383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089383
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089383
    reference: chr 5
allele count: 10
allele frequency: 8.239811473113494e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5829T>C
  hgvsp: ENST00000438447.1:c.5829T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5829T>C
  hgvsp: ENST00000282493.3:c.5829T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1943Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.637070305752289e-5
  allele num: 11578
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-32089386-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089386
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089386
    reference: chr 5
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5832C>G
  hgvsp: ENSP00000282493.3:p.Asp1944Glu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5832C>G
  hgvsp: ENSP00000402033.1:p.Asp1944Glu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28101
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1944Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-32089389-AAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089389
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089386
    reference: chr 5
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5837_5839delACA
  hgvsp: ENSP00000282493.3:p.Asn1946del
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5837_5839delACA
  hgvsp: ENSP00000402033.1:p.Asn1946del
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 477
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 268
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 312
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1146
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 47673
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1946del
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66698
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: AAAC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

5-32089393-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089393
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089393
    reference: chr 5
allele count: 11
allele frequency: 9.065734819014967e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5839A>G
  hgvsp: ENSP00000402033.1:p.Thr1947Ala
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5839A>G
  hgvsp: ENSP00000282493.3:p.Thr1947Ala
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 61
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
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  all individuals: 30
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genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6700
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genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr1947Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.212709192335678e-4
  allele num: 16492
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-32089395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089395
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089395
    reference: chr 5
allele count: 3
allele frequency: 2.472839974282464e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5841C>T
  hgvsp: ENST00000282493.3:c.5841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5841C>T
  hgvsp: ENST00000438447.1:c.5841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1947Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-32089398-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089398
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089398
    reference: chr 5
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5844A>T
  hgvsp: ENST00000282493.3:c.5844A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5844A>T
  hgvsp: ENST00000438447.1:c.5844A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr1948Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

5-32089405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089405
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089405
    reference: chr 5
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5851C>T
  hgvsp: ENSP00000402033.1:p.Pro1951Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5851C>T
  hgvsp: ENSP00000282493.3:p.Pro1951Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro1951Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-32089408-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089408
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089408
    reference: chr 5
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5854A>C
  hgvsp: ENST00000438447.1:c.5854A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5854A>C
  hgvsp: ENST00000282493.3:c.5854A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Arg1952Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-32089410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089410
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089410
    reference: chr 5
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5856G>A
  hgvsp: ENST00000438447.1:c.5856G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5856G>A
  hgvsp: ENST00000282493.3:c.5856G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 6599
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1952Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-32089413-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089413
    reference: chr 5
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5859C>A
  hgvsp: ENST00000438447.1:c.5859C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5859C>A
  hgvsp: ENST00000282493.3:c.5859C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23940
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 756
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genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6556
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1953Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10396
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

5-32089413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089413
    reference: chr 5
allele count: 406
allele frequency: 3.348122247695073e-3
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5859C>T
  hgvsp: ENST00000282493.3:c.5859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5859C>T
  hgvsp: ENST00000438447.1:c.5859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 23940
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 268
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 148
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genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 184
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genotype depth: GenotypeDepth
  all individuals: 472
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 306
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 756
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hgvs: p.Ser1953Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 4
  allele frequency: 4.424778761061947e-3
  allele num: 904
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

5-32089429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089429
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089429
    reference: chr 5
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5875G>A
  hgvsp: ENSP00000282493.3:p.Glu1959Lys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5875G>A
  hgvsp: ENSP00000402033.1:p.Glu1959Lys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Glu1959Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-32089434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089434
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089434
    reference: chr 5
allele count: 8
allele frequency: 6.599135513247765e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5880C>T
  hgvsp: ENST00000282493.3:c.5880C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5880C>T
  hgvsp: ENST00000438447.1:c.5880C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1960Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66616
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/5-32089441-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089441
    reference: chr 5
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5887C>A
  hgvsp: ENSP00000402033.1:p.Pro1963Thr
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5887C>A
  hgvsp: ENSP00000282493.3:p.Pro1963Thr
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro1963Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.065752759917505e-5
  allele num: 16486
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

5-32089441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089441
    reference: chr 5
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5887C>T
  hgvsp: ENSP00000402033.1:p.Pro1963Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5887C>T
  hgvsp: ENSP00000282493.3:p.Pro1963Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro1963Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16486
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-32089452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089452
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089452
    reference: chr 5
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5898C>T
  hgvsp: ENST00000438447.1:c.5898C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5898C>T
  hgvsp: ENST00000282493.3:c.5898C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr1966Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.501817198810561e-5
  allele num: 66586
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

5-32089454-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089454
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089454
    reference: chr 5
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5900C>G
  hgvsp: ENSP00000282493.3:p.Ser1967Cys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5900C>G
  hgvsp: ENSP00000402033.1:p.Ser1967Cys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser1967Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-32089461-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089461
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089461
    reference: chr 5
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.5907A>C
  hgvsp: ENST00000438447.1:c.5907A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.5907A>C
  hgvsp: ENST00000282493.3:c.5907A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1969Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.565513e6

VQSLOD
type: SiteQuality
SIO_000300: -3.521e-1

FS
type: SiteQuality
SIO_000300: 5.173e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.786e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.882e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.565522e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: -2.751e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.565443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQ
type: SiteQuality
SIO_000300: 5.257e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 1.451e0

MQRankSum
type: SiteQuality
SIO_000300: -3.873e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.196e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.006e0

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 1.565263e6

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.565277e6

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.454e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
type: SiteQuality
SIO_000300: 3.799e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.867e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.951219512195122e-4
allele num: 10250
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 1.393e0

QD
type: SiteQuality
SIO_000300: 1.676e1

DP
type: SiteQuality
SIO_000300: 1.565363e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

African
type: Population
allele count: 3
allele frequency: 2.926258291065158e-4
allele num: 10252
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.73460537727667e-4
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 1.565562e6

FS
type: SiteQuality
SIO_000300: 1.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.894097643915473e-4
allele num: 16468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.566016e6

QD
type: SiteQuality
SIO_000300: 1.212e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.565391e6

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 3.586e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.457e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

DP
type: SiteQuality
SIO_000300: 1.565289e6

QD
type: SiteQuality
SIO_000300: 1.098e1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 3.444e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.992e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
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MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.796e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 4.386e0

DP
type: SiteQuality
SIO_000300: 1.565439e6

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

East Asian
type: Population
allele count: 8
allele frequency: 9.272137227630969e-4
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
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South Asian
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allele count: 0
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allele num: 16470
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e0

FS
type: SiteQuality
SIO_000300: 1.744e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 1.566105e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508568670045861e-5
allele num: 66288
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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Latino
type: Population
allele count: 0
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allele num: 11538
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MQ
type: SiteQuality
SIO_000300: 5.893e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.575e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 1.359e0

DP
type: SiteQuality
SIO_000300: 1.566117e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.166e-1

QD
type: SiteQuality
SIO_000300: 1.77e1

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66300
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Other
type: Population
allele count: 0
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allele num: 902
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.693e1

DP
type: SiteQuality
SIO_000300: 1.566164e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

QD
type: SiteQuality
SIO_000300: 1.832e1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

FS
type: SiteQuality
SIO_000300: 8.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8628
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MQRankSum
type: SiteQuality
SIO_000300: -7.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.566207e6

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

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

African
type: Population
allele count: 3
allele frequency: 2.923976608187135e-4
allele num: 10260
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 1.566418e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.38e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 8.347e0

QD
type: SiteQuality
SIO_000300: 1.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 1.566947e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.956e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522158577027435e-5
allele num: 66340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.56774e6

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.186e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014227152158187e-5
allele num: 66352
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 902
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

FS
type: SiteQuality
SIO_000300: 3.213e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.567565e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
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allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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DP
type: SiteQuality
SIO_000300: 1.568119e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.879e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -4.894e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 7.79e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
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African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
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South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 904
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.841e0

FS
type: SiteQuality
SIO_000300: 3.918e0

DP
type: SiteQuality
SIO_000300: 1.569606e6

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.014314067480604e-5
allele num: 66508
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.175e0

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 3.233e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.570959e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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African
type: Population
allele count: 2
allele frequency: 1.937608990505716e-4
allele num: 10322
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 904
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VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

QD
type: SiteQuality
SIO_000300: 1.681e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.571625e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
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Latino
type: Population
allele count: 0
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African
type: Population
allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.638e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.571854e6

FS
type: SiteQuality
SIO_000300: 3.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

Other
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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MQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 6.806e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.572059e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.095e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.996e0

DP
type: SiteQuality
SIO_000300: 1.572132e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.034e1

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.141e1

FS
type: SiteQuality
SIO_000300: 9.076000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.249e0

DP
type: SiteQuality
SIO_000300: 1.572946e6

MQ
type: SiteQuality
SIO_000300: 5.019e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.732e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 2.303e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

DP
type: SiteQuality
SIO_000300: 1.573286e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.585e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.165e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

Latino
type: Population
allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.069e0

FS
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

QD
type: SiteQuality
SIO_000300: 4.83e0

DP
type: SiteQuality
SIO_000300: 1.575736e6

MQ
type: SiteQuality
SIO_000300: 5.376e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.572789e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.572789e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

DP
type: SiteQuality
SIO_000300: 1.572789e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

DP
type: SiteQuality
SIO_000300: 1.571779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

DP
type: SiteQuality
SIO_000300: 1.573175e6

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e0

QD
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.573507e6

VQSLOD
type: SiteQuality
SIO_000300: -2.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.289e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.574715e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.297e1

FS
type: SiteQuality
SIO_000300: 1.361e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

DP
type: SiteQuality
SIO_000300: 1.574856e6

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.215e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.574856e6

QD
type: SiteQuality
SIO_000300: 1.215e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

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

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

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

African
type: Population
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
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.498275396658768e-5
allele num: 66682
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 1.574871e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.891287586738628e-4
allele num: 10376
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

VQSLOD
type: SiteQuality
SIO_000300: -1.557e0

MQ
type: SiteQuality
SIO_000300: 5.51e1

QD
type: SiteQuality
SIO_000300: 1.136e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.664e0

DP
type: SiteQuality
SIO_000300: 1.574815e6

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 5.616e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.574933e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
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Other
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allele num: 908
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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European (Finnish)
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allele num: 6614
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.004e0

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.862e1

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
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SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.575426e6

East Asian
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allele count: 0
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allele num: 8654
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Latino
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allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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European (Finnish)
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allele frequency: 3.023888720895071e-4
allele num: 6614
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66710
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Other
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East Asian
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South Asian
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Latino
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MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 4.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 1.576054e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

Other
type: Population
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allele num: 908
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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East Asian
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DP
type: SiteQuality
SIO_000300: 1.576184e6

VQSLOD
type: SiteQuality
SIO_000300: -1.997e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

QD
type: SiteQuality
SIO_000300: 2.323e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.401e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 8.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
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FS
type: SiteQuality
SIO_000300: 6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.129e1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 1.576126e6

African
type: Population
allele count: 0
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South Asian
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European (Finnish)
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allele count: 0
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allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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East Asian
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Other
type: Population
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allele num: 906
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MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
SIO_000300: 8.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.638e0

DP
type: SiteQuality
SIO_000300: 1.576285e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.407e1

East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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Other
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.751e0

South Asian
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African
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Other
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
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East Asian
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Latino
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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East Asian
type: Population
allele count: 0
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Latino
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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allele num: 906
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 1.576223e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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East Asian
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allele count: 0
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allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Latino
type: Population
allele count: 0
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Other
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allele count: 0
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 4.774e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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East Asian
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Other
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allele num: 906
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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European (Finnish)
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allele count: 0
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QD
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

Other
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 66716
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European (Finnish)
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African
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MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

Other
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European (Non-Finnish)
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allele frequency: 1.498890820792613e-5
allele num: 66716
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

South Asian
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allele count: 1
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allele num: 16510
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East Asian
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allele num: 8654
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African
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European (Non-Finnish)
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European (Finnish)
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allele count: 0
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

Other
type: Population
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African
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allele frequency: 9.611687812379854e-5
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

African
type: Population
allele count: 14
allele frequency: 1.34563629373318e-3
allele num: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.853e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

DP
type: SiteQuality
SIO_000300: 1.578102e6

FS
type: SiteQuality
SIO_000300: 1.748e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.577432e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.502e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e0

DP
type: SiteQuality
SIO_000300: 1.577149e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.212e1

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

African
type: Population
allele count: 9
allele frequency: 8.650519031141869e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.372e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.577449e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.524e0

DP
type: SiteQuality
SIO_000300: 1.576718e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

QD
type: SiteQuality
SIO_000300: 1.716e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.072e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.426e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.202e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 1.576053e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

MQ
type: SiteQuality
SIO_000300: 5.648e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349487194865951e-4
allele num: 66692
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.322e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

DP
type: SiteQuality
SIO_000300: 1.575915e6

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499235130027895e-5
allele num: 66678
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 1.575405e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.448e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.574445e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

QD
type: SiteQuality
SIO_000300: 2.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

FS
type: SiteQuality
SIO_000300: 4.864e0

DP
type: SiteQuality
SIO_000300: 1.573624e6

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.311e0

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.169e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

DP
type: SiteQuality
SIO_000300: 1.573453e6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

VQSLOD
type: SiteQuality
SIO_000300: -1.38e0

DP
type: SiteQuality
SIO_000300: 1.573241e6

FS
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
SIO_000300: 2.529e1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.601058e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

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

European (Non-Finnish)
type: Population
allele count: 341
allele frequency: 5.114897702045959e-3
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.641337386018237e-3
allele num: 16450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 1.986526170323026e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.771450557906887e-4
allele num: 10396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 1.601058e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 1.588061e6

MQ
type: SiteQuality
SIO_000300: 5.795e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

East Asian
type: Population
allele count: 8
allele frequency: 9.246417013407304e-4
allele num: 8652
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.588714e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.984e0

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

FS
type: SiteQuality
SIO_000300: 3.242e0

QD
type: SiteQuality
SIO_000300: 9.83e0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 1.612e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

QD
type: SiteQuality
SIO_000300: 1.293e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.588395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

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

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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 1.612e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

DP
type: SiteQuality
SIO_000300: 1.588395e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.631e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.588404e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.656e0

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.113e-1

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.588397e6

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.502e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

QD
type: SiteQuality
SIO_000300: 1.56e1

FS
type: SiteQuality
SIO_000300: 5.632e0

MQ
type: SiteQuality
SIO_000300: 5.975e1