16-2159399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159399
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159399
    reference: chr 16
allele count: 4
allele frequency: 3.725921234025113e-5
allele num: 107356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5769C>T
  hgvsp: ENST00000262304.4:c.5769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2450C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2450C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-48C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1040C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.456C>T
  hgvsp: ENST00000487932.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2418C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5769C>T
  hgvsp: ENST00000423118.1:c.5769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2450C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2450C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2450C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32865
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val1923Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

16-2159405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159405
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159405
    reference: chr 16
allele count: 3512
allele frequency: 3.272944158652054e-2
allele num: 107304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2456G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2456G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.450G>A
  hgvsp: ENST00000487932.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5763G>A
  hgvsp: ENST00000262304.4:c.5763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1046G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2456G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-54G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5763G>A
  hgvsp: ENST00000423118.1:c.5763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2456G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2412G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2456G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31033
  bin: 2.25e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 398
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 13103
  bin: 2.75e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 1.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.5e0
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 527
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 549
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Leu1921Leu
num of homozygotes: 83
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

16-2159409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159409
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159409
    reference: chr 16
allele count: 4
allele frequency: 3.736432081005847e-5
allele num: 107054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2460G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2408G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2460G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1050G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5759G>A
  hgvsp: ENSP00000399501.1:p.Arg1920His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.446G>A
  hgvsp: ENSP00000457132.1:p.Arg149His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5759G>A
  hgvsp: ENSP00000262304.4:p.Arg1920His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2460G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2460G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-58G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2460G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1920His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

16-2159410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159410
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159410
    reference: chr 16
allele count: 12
allele frequency: 1.120427256260387e-4
allele num: 107102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1051C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.445C>T
  hgvsp: ENSP00000457132.1:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5758C>T
  hgvsp: ENSP00000399501.1:p.Arg1920Cys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2461C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2461C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5758C>T
  hgvsp: ENSP00000262304.4:p.Arg1920Cys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2461C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2461C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-59C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2461C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2407C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31435
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1920Cys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

16-2159410-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159410
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159410
    reference: chr 16
allele count: 1
allele frequency: 9.336893802169894e-6
allele num: 107102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2407C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2461C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2461C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2461C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5758C>G
  hgvsp: ENSP00000262304.4:p.Arg1920Gly
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5758C>G
  hgvsp: ENSP00000399501.1:p.Arg1920Gly
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2461C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.445C>G
  hgvsp: ENSP00000457132.1:p.Arg149Gly
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2461C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1051C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-59C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1920Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2159411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159411
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159411
    reference: chr 16
allele count: 4
allele frequency: 3.736152883375987e-5
allele num: 107062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5757C>T
  hgvsp: ENST00000262304.4:c.5757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-60C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1052C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.444C>T
  hgvsp: ENST00000487932.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2462C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2462C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2462C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2406C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2462C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5757C>T
  hgvsp: ENST00000423118.1:c.5757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2462C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1919Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

16-2159414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159414
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159414
    reference: chr 16
allele count: 3
allele frequency: 2.804262478968031e-5
allele num: 106980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2465C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-63C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.441C>T
  hgvsp: ENST00000487932.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2465C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5754C>T
  hgvsp: ENST00000423118.1:c.5754C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5754C>T
  hgvsp: ENST00000262304.4:c.5754C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2403C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2465C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1055C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2465C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2465C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1918Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

16-2159417-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159417
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159417
    reference: chr 16
allele count: 1
allele frequency: 9.350688210652304e-6
allele num: 106944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5751C>A
  hgvsp: ENST00000423118.1:c.5751C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.438C>A
  hgvsp: ENST00000487932.1:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-66C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5751C>A
  hgvsp: ENST00000262304.4:c.5751C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2468C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2468C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2468C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2400C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2468C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2468C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1058C>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1917Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

16-2159422-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159422
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159422
    reference: chr 16
allele count: 2
allele frequency: 1.87336080929187e-5
allele num: 106760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2395G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2473G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2473G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.433G>C
  hgvsp: ENSP00000457132.1:p.Ala145Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2473G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5746G>C
  hgvsp: ENSP00000399501.1:p.Ala1916Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2473G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5746G>C
  hgvsp: ENSP00000262304.4:p.Ala1916Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2473G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-71G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1063G>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1916Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-2159424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159424
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159424
    reference: chr 16
allele count: 1
allele frequency: 9.367155007681067e-6
allele num: 106756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2475C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-73C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5744C>T
  hgvsp: ENSP00000262304.4:p.Ser1915Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5744C>T
  hgvsp: ENSP00000399501.1:p.Ser1915Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2475C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.431C>T
  hgvsp: ENSP00000457132.1:p.Ser144Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2475C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1065C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2393C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2475C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2475C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1915Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-2159428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159428
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159428
    reference: chr 16
allele count: 2
allele frequency: 1.874273718933913e-5
allele num: 106708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2479G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2479G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2479G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-77G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5740G>A
  hgvsp: ENSP00000399501.1:p.Gly1914Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2479G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.427G>A
  hgvsp: ENSP00000457132.1:p.Gly143Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2479G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5740G>A
  hgvsp: ENSP00000262304.4:p.Gly1914Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1069G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2389G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1914Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-2159429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159429
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159429
    reference: chr 16
allele count: 6
allele frequency: 5.616189602560982e-5
allele num: 106834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2388C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5739C>T
  hgvsp: ENST00000423118.1:c.5739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.426C>T
  hgvsp: ENST00000487932.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2480C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2480C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2480C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5739C>T
  hgvsp: ENST00000262304.4:c.5739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2480C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2480C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1070C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-78C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1913Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

16-2159433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159433
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159433
    reference: chr 16
allele count: 1
allele frequency: 9.344047841524949e-6
allele num: 107020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2484C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1074C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5735C>T
  hgvsp: ENSP00000262304.4:p.Ala1912Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5735C>T
  hgvsp: ENSP00000399501.1:p.Ala1912Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2384C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-82C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2484C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2484C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2484C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.422C>T
  hgvsp: ENSP00000457132.1:p.Ala141Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2484C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1912Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

16-2159437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159437
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159437
    reference: chr 16
allele count: 1
allele frequency: 9.347541596560104e-6
allele num: 106980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2488C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2488C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.418C>T
  hgvsp: ENST00000487932.1:c.418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2380C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5731C>T
  hgvsp: ENST00000423118.1:c.5731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2488C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2488C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2488C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-86C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5731C>T
  hgvsp: ENST00000262304.4:c.5731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1078C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1911Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

16-2159438-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159438
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159438
    reference: chr 16
allele count: 1
allele frequency: 9.351562646118167e-6
allele num: 106934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1079G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5730G>C
  hgvsp: ENST00000262304.4:c.5730G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2489G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2489G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2379G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2489G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2489G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-87G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2489G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5730G>C
  hgvsp: ENST00000423118.1:c.5730G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.417G>C
  hgvsp: ENST00000487932.1:c.417G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1910Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-2159440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159440
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159440
    reference: chr 16
allele count: 1
allele frequency: 9.348065885168358e-6
allele num: 106974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2491C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2491C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2491C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.415C>T
  hgvsp: ENST00000487932.1:c.415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-89C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2491C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5728C>T
  hgvsp: ENST00000262304.4:c.5728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5728C>T
  hgvsp: ENST00000423118.1:c.5728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2377C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2491C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1081C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu1910Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-2159440-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159440
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159440
    reference: chr 16
allele count: 6
allele frequency: 5.608839531101015e-5
allele num: 106974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2491C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2491C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5728C>A
  hgvsp: ENSP00000262304.4:p.Leu1910Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2491C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2491C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-89C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5728C>A
  hgvsp: ENSP00000399501.1:p.Leu1910Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1081C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.415C>A
  hgvsp: ENSP00000457132.1:p.Leu139Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2377C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2491C>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30313
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1910Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/16-2159444-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159444
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159444
    reference: chr 16
allele count: 1
allele frequency: 9.348765028139783e-6
allele num: 106966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2495G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-93G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5724G>T
  hgvsp: ENSP00000262304.4:p.Gln1908His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2495G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2495G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.411G>T
  hgvsp: ENSP00000457132.1:p.Gln137His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2495G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2373G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1085G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5724G>T
  hgvsp: ENSP00000399501.1:p.Gln1908His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2495G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30086
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1908His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-2159447-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159447
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159447
    reference: chr 16
allele count: 2
allele frequency: 1.873220440581448e-5
allele num: 106768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2498T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2498T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2370T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5721T>G
  hgvsp: ENSP00000262304.4:p.Phe1907Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2498T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1088T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.408T>G
  hgvsp: ENSP00000457132.1:p.Phe136Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2498T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-96T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5721T>G
  hgvsp: ENSP00000399501.1:p.Phe1907Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2498T>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1907Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-2159456-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159456
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159456
    reference: chr 16
allele count: 1
allele frequency: 9.413891137762884e-6
allele num: 106226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2507G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1097G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2507G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2507G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5712G>T
  hgvsp: ENST00000262304.4:c.5712G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2361G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2507G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5712G>T
  hgvsp: ENST00000423118.1:c.5712G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.399G>T
  hgvsp: ENST00000487932.1:c.399G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2507G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-105G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27030
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1904Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-2159456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159456
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159456
    reference: chr 16
allele count: 2
allele frequency: 1.882778227552577e-5
allele num: 106226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5712G>A
  hgvsp: ENST00000262304.4:c.5712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2507G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2507G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2507G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1097G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2507G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.399G>A
  hgvsp: ENST00000487932.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2361G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5712G>A
  hgvsp: ENST00000423118.1:c.5712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2507G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-105G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1904Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-2159457-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159457
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159457
    reference: chr 16
allele count: 1
allele frequency: 9.417614706547127e-6
allele num: 106184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2508T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2360T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2508T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5711T>G
  hgvsp: ENSP00000399501.1:p.Leu1904Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-106T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.398T>G
  hgvsp: ENSP00000457132.1:p.Leu133Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2508T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1098T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5711T>G
  hgvsp: ENSP00000262304.4:p.Leu1904Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2508T>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2508T>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1904Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-2159457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159457
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159457
    reference: chr 16
allele count: 1
allele frequency: 9.417614706547127e-6
allele num: 106184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2508T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-106T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1098T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2508T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2360T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5711T>C
  hgvsp: ENSP00000262304.4:p.Leu1904Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2508T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5711T>C
  hgvsp: ENSP00000399501.1:p.Leu1904Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.398T>C
  hgvsp: ENSP00000457132.1:p.Leu133Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2508T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2508T>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1904Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2159458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159458
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159458
    reference: chr 16
allele count: 1
allele frequency: 9.44536799153695e-6
allele num: 105872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5710C>T
  hgvsp: ENST00000423118.1:c.5710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5710C>T
  hgvsp: ENST00000262304.4:c.5710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2509C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2509C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2509C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2509C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2359C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-107C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.397C>T
  hgvsp: ENST00000487932.1:c.397C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2509C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1099C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1904Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

16-2159464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159464
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159464
    reference: chr 16
allele count: 18
allele frequency: 1.708882390916341e-4
allele num: 105332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-113G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5704G>A
  hgvsp: ENSP00000262304.4:p.Gly1902Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5704G>A
  hgvsp: ENSP00000399501.1:p.Gly1902Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1105G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2353G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2515G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.391G>A
  hgvsp: ENSP00000457132.1:p.Gly131Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2515G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2515G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2515G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2515G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25667
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1902Arg
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-2159465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159465
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159465
    reference: chr 16
allele count: 1
allele frequency: 9.485686099675589e-6
allele num: 105422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2516C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2516C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.390C>T
  hgvsp: ENST00000487932.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5703C>T
  hgvsp: ENST00000262304.4:c.5703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2352C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2516C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1106C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-114C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5703C>T
  hgvsp: ENST00000423118.1:c.5703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2516C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2516C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1901Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

16-2159469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159469
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159469
    reference: chr 16
allele count: 3
allele frequency: 2.85284999714715e-5
allele num: 105158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2520C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2520C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2348C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-118C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.386C>T
  hgvsp: ENSP00000457132.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2520C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2520C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2520C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5699C>T
  hgvsp: ENSP00000399501.1:p.Ala1900Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5699C>T
  hgvsp: ENSP00000262304.4:p.Ala1900Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1110C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25531
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1900Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

16-2159480-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159480
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159480
    reference: chr 16
allele count: 12
allele frequency: 1.142421934501142e-4
allele num: 105040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2337C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2531C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2531C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2531C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2531C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.375C>G
  hgvsp: ENSP00000457132.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5688C>G
  hgvsp: ENSP00000399501.1:p.Ser1896Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5688C>G
  hgvsp: ENSP00000262304.4:p.Ser1896Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-129C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2531C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1121C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25081
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser1896Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

16-2159482-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159482
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159482
    reference: chr 16
allele count: 2
allele frequency: 1.902732323616714e-5
allele num: 105112
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5686A>C
  hgvsp: ENSP00000262304.4:p.Ser1896Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2533A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2533A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5686A>C
  hgvsp: ENSP00000399501.1:p.Ser1896Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2335A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2533A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2533A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.373A>C
  hgvsp: ENSP00000457132.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2533A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1123A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-131A>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1896Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-2159486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159486
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159486
    reference: chr 16
allele count: 498
allele frequency: 4.741863609529432e-3
allele num: 105022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2537C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2331C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2537C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2537C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2537C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5682C>T
  hgvsp: ENST00000423118.1:c.5682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2537C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.369C>T
  hgvsp: ENST00000487932.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1127C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5682C>T
  hgvsp: ENST00000262304.4:c.5682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-135C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 1.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 2.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 24736
  bin: 2.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
hgvs: p.Ala1894Ala
num of homozygotes: 2
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

16-2159503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159503
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159503
    reference: chr 16
allele count: 7
allele frequency: 6.685258050960767e-5
allele num: 104708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2554G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2554G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2554G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2314G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.352G>A
  hgvsp: ENSP00000457132.1:p.Gly118Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5665G>A
  hgvsp: ENSP00000262304.4:p.Gly1889Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2554G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5665G>A
  hgvsp: ENSP00000399501.1:p.Gly1889Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1144G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2554G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-152G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23004
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1889Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-2159506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159506
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159506
    reference: chr 16
allele count: 1
allele frequency: 9.560229445506692e-6
allele num: 104600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2557G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5662G>A
  hgvsp: ENSP00000399501.1:p.Val1888Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5662G>A
  hgvsp: ENSP00000262304.4:p.Val1888Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.349G>A
  hgvsp: ENSP00000457132.1:p.Val117Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1147G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2311G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2557G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2557G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-155G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2557G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2557G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1888Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

16-2159507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159507
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159507
    reference: chr 16
allele count: 6
allele frequency: 5.728032993470042e-5
allele num: 104748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5661C>T
  hgvsp: ENST00000262304.4:c.5661C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5661C>T
  hgvsp: ENST00000423118.1:c.5661C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-156C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1148C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.348C>T
  hgvsp: ENST00000487932.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2558C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2558C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2558C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2310C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2558C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2558C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1887Ile
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

16-2159508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159508
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159508
    reference: chr 16
allele count: 1
allele frequency: 9.52653138992093e-6
allele num: 104970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2559T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2559T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5660T>C
  hgvsp: ENSP00000262304.4:p.Ile1887Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5660T>C
  hgvsp: ENSP00000399501.1:p.Ile1887Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.347T>C
  hgvsp: ENSP00000457132.1:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2559T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2309T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-157T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2559T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2559T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1149T>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1887Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

16-2159509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159509
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159509
    reference: chr 16
allele count: 1
allele frequency: 9.528710003239762e-6
allele num: 104946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2560A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2560A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1150A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5659A>G
  hgvsp: ENSP00000399501.1:p.Ile1887Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2560A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5659A>G
  hgvsp: ENSP00000262304.4:p.Ile1887Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2560A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.346A>G
  hgvsp: ENSP00000457132.1:p.Ile116Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2560A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2308A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-158A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23895
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1887Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

16-2159511-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159511
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159511
    reference: chr 16
allele count: 1
allele frequency: 9.541802637354249e-6
allele num: 104802
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2562C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5657C>G
  hgvsp: ENSP00000262304.4:p.Pro1886Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.344C>G
  hgvsp: ENSP00000457132.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2562C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2562C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2562C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2562C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-160C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5657C>G
  hgvsp: ENSP00000399501.1:p.Pro1886Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2306C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1152C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1886Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-2159512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159512
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159512
    reference: chr 16
allele count: 1
allele frequency: 9.544170420707032e-6
allele num: 104776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5656C>T
  hgvsp: ENSP00000399501.1:p.Pro1886Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5656C>T
  hgvsp: ENSP00000262304.4:p.Pro1886Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2563C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2563C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2305C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2563C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2563C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2563C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.343C>T
  hgvsp: ENSP00000457132.1:p.Pro115Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1153C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-161C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1886Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-2159515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159515
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159515
    reference: chr 16
allele count: 1
allele frequency: 9.549091881362083e-6
allele num: 104722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2566G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-164G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2566G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2566G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2302G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5653G>A
  hgvsp: ENSP00000262304.4:p.Glu1885Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2566G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.340G>A
  hgvsp: ENSP00000457132.1:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5653G>A
  hgvsp: ENSP00000399501.1:p.Glu1885Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1156G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2566G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu1885Lys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

16-2159519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159519
    reference: chr 16
allele count: 3
allele frequency: 2.869275794789395e-5
allele num: 104556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.336G>A
  hgvsp: ENST00000487932.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2298G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1160G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2570G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5649G>A
  hgvsp: ENST00000262304.4:c.5649G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2570G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5649G>A
  hgvsp: ENST00000423118.1:c.5649G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2570G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2570G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2570G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-168G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24553
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1883Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

16-2159520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159520
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159520
    reference: chr 16
allele count: 19
allele frequency: 1.812458265763617e-4
allele num: 104830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5648C>T
  hgvsp: ENSP00000399501.1:p.Ala1883Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2571C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-169C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.335C>T
  hgvsp: ENSP00000457132.1:p.Ala112Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2571C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2571C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1161C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5648C>T
  hgvsp: ENSP00000262304.4:p.Ala1883Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2297C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2571C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2571C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25078
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1883Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

16-2159522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159522
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159522
    reference: chr 16
allele count: 5
allele frequency: 4.768626254148705e-5
allele num: 104852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5646G>A
  hgvsp: ENST00000423118.1:c.5646G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2573G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2295G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2573G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2573G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2573G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2573G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-171G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.333G>A
  hgvsp: ENST00000487932.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1163G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5646G>A
  hgvsp: ENST00000262304.4:c.5646G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25981
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1882Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-2159523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159523
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159523
    reference: chr 16
allele count: 5
allele frequency: 4.770355105234034e-5
allele num: 104814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2574C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5645C>T
  hgvsp: ENSP00000262304.4:p.Thr1882Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5645C>T
  hgvsp: ENSP00000399501.1:p.Thr1882Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-172C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2574C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.332C>T
  hgvsp: ENSP00000457132.1:p.Thr111Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2574C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2294C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1164C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2574C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2574C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26428
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1882Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-2159523-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159523
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159523
    reference: chr 16
allele count: 1
allele frequency: 9.540710210468067e-6
allele num: 104814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2574C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2574C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2574C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5645C>G
  hgvsp: ENSP00000262304.4:p.Thr1882Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5645C>G
  hgvsp: ENSP00000399501.1:p.Thr1882Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2574C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.332C>G
  hgvsp: ENSP00000457132.1:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-172C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1164C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2294C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2574C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1882Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

16-2159527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159527
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159527
    reference: chr 16
allele count: 1
allele frequency: 9.511308946337194e-6
allele num: 105138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2578C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.328C>T
  hgvsp: ENSP00000457132.1:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2578C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5641C>T
  hgvsp: ENSP00000262304.4:p.Leu1881Phe
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2290C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5641C>T
  hgvsp: ENSP00000399501.1:p.Leu1881Phe
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2578C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2578C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2578C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-176C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1168C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1881Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2159527-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159527
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159527
    reference: chr 16
allele count: 1
allele frequency: 9.511308946337194e-6
allele num: 105138
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5641C>G
  hgvsp: ENSP00000262304.4:p.Leu1881Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2578C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2578C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-176C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2290C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.328C>G
  hgvsp: ENSP00000457132.1:p.Leu110Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5641C>G
  hgvsp: ENSP00000399501.1:p.Leu1881Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2578C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2578C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1168C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2578C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1881Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-2159528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159528
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159528
    reference: chr 16
allele count: 3
allele frequency: 2.8521448128993e-5
allele num: 105184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2579C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2579C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2579C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2579C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-177C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.327C>T
  hgvsp: ENST00000487932.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5640C>T
  hgvsp: ENST00000262304.4:c.5640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5640C>T
  hgvsp: ENST00000423118.1:c.5640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2289C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1169C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2579C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1880Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-2159529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159529
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159529
    reference: chr 16
allele count: 5
allele frequency: 4.751677342101762e-5
allele num: 105226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1170A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5639A>G
  hgvsp: ENSP00000399501.1:p.Asn1880Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2580A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2288A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2580A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2580A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-178A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.326A>G
  hgvsp: ENSP00000457132.1:p.Asn109Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5639A>G
  hgvsp: ENSP00000262304.4:p.Asn1880Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2580A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2580A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27474
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1880Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

16-2159529-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159529
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159529
    reference: chr 16
allele count: 1
allele frequency: 9.503354684203523e-6
allele num: 105226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2580A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-178A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1170A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2580A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2580A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5639A>C
  hgvsp: ENSP00000262304.4:p.Asn1880Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2580A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5639A>C
  hgvsp: ENSP00000399501.1:p.Asn1880Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2580A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.326A>C
  hgvsp: ENSP00000457132.1:p.Asn109Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2288A>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1880Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-2159535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159535
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159535
    reference: chr 16
allele count: 27
allele frequency: 2.567955717030302e-4
allele num: 105142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5633C>T
  hgvsp: ENSP00000399501.1:p.Thr1878Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-184C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2586C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.320C>T
  hgvsp: ENSP00000457132.1:p.Thr107Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2282C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1176C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2586C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5633C>T
  hgvsp: ENSP00000262304.4:p.Thr1878Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2586C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2586C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2586C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28167
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1878Met
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

16-2159537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159537
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159537
    reference: chr 16
allele count: 1
allele frequency: 9.509319132750094e-6
allele num: 105160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5631C>T
  hgvsp: ENST00000262304.4:c.5631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2280C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.318C>T
  hgvsp: ENST00000487932.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2588C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2588C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1178C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-186C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2588C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2588C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5631C>T
  hgvsp: ENST00000423118.1:c.5631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2588C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1877Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-2159540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159540
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159540
    reference: chr 16
allele count: 9
allele frequency: 8.560015217804831e-5
allele num: 105140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2591A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2591A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5628A>G
  hgvsp: ENST00000262304.4:c.5628A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2277A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.315A>G
  hgvsp: ENST00000487932.1:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5628A>G
  hgvsp: ENST00000423118.1:c.5628A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2591A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-189A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2591A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1181A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2591A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1876Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-2159543-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159543
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159543
    reference: chr 16
allele count: 1
allele frequency: 9.523265337218826e-6
allele num: 105006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1184C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2274C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2594C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5625C>G
  hgvsp: ENST00000262304.4:c.5625C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2594C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2594C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5625C>G
  hgvsp: ENST00000423118.1:c.5625C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.312C>G
  hgvsp: ENST00000487932.1:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2594C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-192C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2594C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1875Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

16-2159552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159552
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159552
    reference: chr 16
allele count: 1
allele frequency: 9.542531060938603e-6
allele num: 104794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2603C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5616C>T
  hgvsp: ENST00000423118.1:c.5616C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2603C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2603C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.303C>T
  hgvsp: ENST00000487932.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-201C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2603C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1193C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5616C>T
  hgvsp: ENST00000262304.4:c.5616C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2603C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2265C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1872Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

16-2159556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159556
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159556
    reference: chr 16
allele count: 2
allele frequency: 1.908688349366315e-5
allele num: 104784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2607C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2261C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1197C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2607C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.299C>G
  hgvsp: ENSP00000457132.1:p.Ala100Gly
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5612C>G
  hgvsp: ENSP00000399501.1:p.Ala1871Gly
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2607C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2607C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2607C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5612C>G
  hgvsp: ENSP00000262304.4:p.Ala1871Gly
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-205C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1871Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-2159557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159557
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159557
    reference: chr 16
allele count: 485
allele frequency: 4.630955791081829e-3
allele num: 104730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2608G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5611G>A
  hgvsp: ENSP00000262304.4:p.Ala1871Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2608G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2608G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5611G>A
  hgvsp: ENSP00000399501.1:p.Ala1871Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2260G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.298G>A
  hgvsp: ENSP00000457132.1:p.Ala100Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2608G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2608G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-206G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1198G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30657
  bin: 2.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala1871Thr
num of homozygotes: 4
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-2159558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159558
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159558
    reference: chr 16
allele count: 1
allele frequency: 9.550551066796555e-6
allele num: 104706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2609C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2609C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2259C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.297C>T
  hgvsp: ENST00000487932.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5610C>T
  hgvsp: ENST00000262304.4:c.5610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2609C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1199C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2609C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5610C>T
  hgvsp: ENST00000423118.1:c.5610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2609C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-207C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1870Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

16-2159564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159564
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159564
    reference: chr 16
allele count: 2
allele frequency: 1.916406354803473e-5
allele num: 104362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2253C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2615C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1205C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2615C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2615C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.291C>T
  hgvsp: ENST00000487932.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5604C>T
  hgvsp: ENST00000423118.1:c.5604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-213C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5604C>T
  hgvsp: ENST00000262304.4:c.5604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2615C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2615C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1868Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/16-2159566-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159566
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159566
    reference: chr 16
allele count: 1
allele frequency: 9.596928982725528e-6
allele num: 104200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2617G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2251G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2617G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5602G>T
  hgvsp: ENSP00000262304.4:p.Ala1868Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2617G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.289G>T
  hgvsp: ENSP00000457132.1:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5602G>T
  hgvsp: ENSP00000399501.1:p.Ala1868Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2617G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1207G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2617G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-215G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31426
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1868Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

16-2159568-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159568
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159568
    reference: chr 16
allele count: 10
allele frequency: 9.616124317255173e-5
allele num: 103992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2249A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5600A>G
  hgvsp: ENSP00000262304.4:p.Asn1867Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-217A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2619A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5600A>G
  hgvsp: ENSP00000399501.1:p.Asn1867Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.287A>G
  hgvsp: ENSP00000457132.1:p.Asn96Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2619A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2619A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2619A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2619A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1209A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11155
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31331
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1867Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

16-2159570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159570
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159570
    reference: chr 16
allele count: 91
allele frequency: 8.807076631244798e-4
allele num: 103326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2247C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2621C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2621C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5598C>T
  hgvsp: ENST00000423118.1:c.5598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2621C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.285C>T
  hgvsp: ENST00000487932.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2621C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-219C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5598C>T
  hgvsp: ENST00000262304.4:c.5598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2621C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1211C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30529
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu1866Leu
num of homozygotes: 1
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-2159572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159572
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159572
    reference: chr 16
allele count: 2
allele frequency: 1.935546307945418e-5
allele num: 103330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2623C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-221C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.283C>T
  hgvsp: ENSP00000457132.1:p.Leu95Phe
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1213C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2623C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5596C>T
  hgvsp: ENSP00000262304.4:p.Leu1866Phe
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2623C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5596C>T
  hgvsp: ENSP00000399501.1:p.Leu1866Phe
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2623C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2623C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2245C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30698
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1866Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

16-2159574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159574
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159574
    reference: chr 16
allele count: 3
allele frequency: 2.910078572121447e-5
allele num: 103090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2625G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5594G>A
  hgvsp: ENSP00000262304.4:p.Arg1865Gln
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2243G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5594G>A
  hgvsp: ENSP00000399501.1:p.Arg1865Gln
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.281G>A
  hgvsp: ENSP00000457132.1:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2625G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1215G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2625G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-223G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2625G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2625G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1865Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

16-2159575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159575
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159575
    reference: chr 16
allele count: 2
allele frequency: 1.949279741135651e-5
allele num: 102602
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5593C>T
  hgvsp: ENSP00000262304.4:p.Arg1865Trp
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2626C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2626C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1216C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2626C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-224C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5593C>T
  hgvsp: ENSP00000399501.1:p.Arg1865Trp
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2242C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.280C>T
  hgvsp: ENSP00000457132.1:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2626C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2626C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1865Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-2159576-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159576
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159576
    reference: chr 16
allele count: 1
allele frequency: 9.729519361743531e-6
allele num: 102780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5592C>G
  hgvsp: ENSP00000262304.4:p.Ile1864Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2627C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2241C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-225C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5592C>G
  hgvsp: ENSP00000399501.1:p.Ile1864Met
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1217C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2627C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2627C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2627C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2627C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.279C>G
  hgvsp: ENSP00000457132.1:p.Ile93Met
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1864Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-2159578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159578
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159578
    reference: chr 16
allele count: 1
allele frequency: 9.749439407234085e-6
allele num: 102570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2239A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-227A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2629A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2629A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.277A>G
  hgvsp: ENSP00000457132.1:p.Ile93Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2629A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5590A>G
  hgvsp: ENSP00000262304.4:p.Ile1864Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5590A>G
  hgvsp: ENSP00000399501.1:p.Ile1864Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2629A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2629A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1219A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1864Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-2159579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159579
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159579
    reference: chr 16
allele count: 6
allele frequency: 5.85514374377891e-5
allele num: 102474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-228C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2630C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.276C>T
  hgvsp: ENST00000487932.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5589C>T
  hgvsp: ENST00000262304.4:c.5589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5589C>T
  hgvsp: ENST00000423118.1:c.5589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2630C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2238C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2630C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2630C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1220C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2630C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11425
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1863Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-2159585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159585
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159585
    reference: chr 16
allele count: 2
allele frequency: 1.983930165658169e-5
allele num: 100810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-234C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2636C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2232C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2636C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2636C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5583C>T
  hgvsp: ENST00000262304.4:c.5583C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.270C>T
  hgvsp: ENST00000487932.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5583C>T
  hgvsp: ENST00000423118.1:c.5583C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2636C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1226C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2636C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1861Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-2159586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2159586
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2159586
    reference: chr 16
allele count: 6
allele frequency: 5.985753905704423e-5
allele num: 100238
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.5582C>T
  hgvsp: ENSP00000262304.4:p.Thr1861Ile
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-1227C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.233+2231C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.431-235C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.774-2637C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1624-2637C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.5582C>T
  hgvsp: ENSP00000399501.1:p.Thr1861Ile
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457132
  ensembl transcript: ENST00000487932
  gene symbol: PKD1
  hgvsc: ENST00000487932.1:c.269C>T
  hgvsp: ENSP00000457132.1:p.Thr90Ile
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.791-2637C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.422-2637C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.311-2637C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1861Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 224
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.450379808870375e-4
allele num: 8162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.419387929560609e-5
allele num: 58490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.309e-1

MQ
type: SiteQuality
SIO_000300: 5.673e1

QD
type: SiteQuality
SIO_000300: 1.081e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 1.26175e6

FS
type: SiteQuality
SIO_000300: 2.919e0

GenotypeQuality
all individuals: 372
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3908
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 971
bin: 2.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4127
bin: 2.25e1
variant carriers: 16

GenotypeQuality
all individuals: 968
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 342
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 470
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3552
bin: 9.75e1
variant carriers: 3350

GenotypeQuality
all individuals: 351
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 2228
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 707
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 576
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 37847
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 786
bin: 7.75e1
variant carriers: 20

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 25

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 301
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 978
bin: 7.25e1
variant carriers: 9

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 20

African
type: Population
allele count: 61
allele frequency: 8.131165022660624e-3
allele num: 7502
num of homozygotes: 0

South Asian
type: Population
allele count: 59
allele frequency: 3.706495790928509e-3
allele num: 15918
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2749
allele frequency: 4.701556353685651e-2
allele num: 58470
num of homozygotes: 62

Latino
type: Population
allele count: 151
allele frequency: 1.374226428831453e-2
allele num: 10988
num of homozygotes: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Other
type: Population
allele count: 21
allele frequency: 2.770448548812665e-2
allele num: 758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 471
allele frequency: 8.529518290474465e-2
allele num: 5522
num of homozygotes: 15

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

FS
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.301841e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.251e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

MQ
type: SiteQuality
SIO_000300: 5.549e1

GenotypeQuality
all individuals: 39251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.117432530999271e-5
allele num: 10968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.137866072957698e-5
allele num: 58390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.265805e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.546e1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

FS
type: SiteQuality
SIO_000300: 5.64e0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

GenotypeQuality
all individuals: 4307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.331911490269261e-4
allele num: 7502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.459419576979833e-4
allele num: 8132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.027326895418122e-4
allele num: 58404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.099e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.487e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.266746e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.173e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 4742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.115770282588879e-5
allele num: 10970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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FS
type: SiteQuality
SIO_000300: 1.099e0

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
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SIO_000300: 1.266746e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58368
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

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

East Asian
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allele frequency: 4.917629702483403e-4
allele num: 8134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.535e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.5e-3

ClippingRankSum
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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QD
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DP
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ReadPosRankSum
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SIO_000300: 4.68e-1

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

South Asian
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allele frequency: 1.256281407035176e-4
allele num: 15920
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.714560043892737e-5
allele num: 58324
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.224e1

ReadPosRankSum
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.261051e6

MQ
type: SiteQuality
SIO_000300: 5.205e1

InbreedingCoeff
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SIO_000300: -4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.877e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.714501251585914e-5
allele num: 58326
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.563e1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

DP
type: SiteQuality
SIO_000300: 1.259747e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.432769214925681e-5
allele num: 58262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

VQSLOD
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MQ
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SIO_000300: 5.456e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.288e0

InbreedingCoeff
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SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 1.25661e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.716679255647875e-5
allele num: 58252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.08e0

MQ
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SIO_000300: 5.524e1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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allele frequency: 1.330140994945464e-4
allele num: 7518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58220
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

East Asian
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allele frequency: 1.232741617357002e-4
allele num: 8112
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.723e1

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.654632333421821e-4
allele num: 7534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.429943405933802e-5
allele num: 58310
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 750
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South Asian
type: Population
allele count: 2
allele frequency: 1.259763164525069e-4
allele num: 15876
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5324
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East Asian
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38941
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710805447204544e-5
allele num: 58452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.260821e6

QD
type: SiteQuality
SIO_000300: 1.122e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.191e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

MQ
type: SiteQuality
SIO_000300: 5.157e1

GenotypeQuality
all individuals: 368
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710805447204544e-5
allele num: 58452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.188e-1

FS
type: SiteQuality
SIO_000300: 2.897e0

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 1.259451e6

QD
type: SiteQuality
SIO_000300: 6.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.214e1

GenotypeQuality
all individuals: 6467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3916
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710746912101824e-5
allele num: 58454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.021e1

FS
type: SiteQuality
SIO_000300: 1.527e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 4.903e1

DP
type: SiteQuality
SIO_000300: 1.258082e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeQuality
all individuals: 736
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 584
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 316
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variant carriers: 1

GenotypeQuality
all individuals: 375
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
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variant carriers: 0

GenotypeQuality
all individuals: 376
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38727
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.314751511964239e-4
allele num: 7606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58498
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.206e1

QD
type: SiteQuality
SIO_000300: 1.155e1

DP
type: SiteQuality
SIO_000300: 1.256798e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.361e0

FS
type: SiteQuality
SIO_000300: 4.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.157e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
all individuals: 3895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.427581084426838e-4
allele num: 8078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.157e-1

FS
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.361e0

MQ
type: SiteQuality
SIO_000300: 5.206e1

DP
type: SiteQuality
SIO_000300: 1.256798e6

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709986320109439e-5
allele num: 58480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.194e1

VQSLOD
type: SiteQuality
SIO_000300: -2.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 1.25419e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

FS
type: SiteQuality
SIO_000300: 3.524e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.897e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 872
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GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.898253606681853e-4
allele num: 5268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.712563364844499e-5
allele num: 58392
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.033e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.154e1

MQ
type: SiteQuality
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VQSLOD
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SIO_000300: -1.101e0

DP
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InbreedingCoeff
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SIO_000300: -5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.202e0

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

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

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

African
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South Asian
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.856320772229441e-4
allele num: 10774
num of homozygotes: 0

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

African
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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QD
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DP
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 1.314751511964239e-4
allele num: 7606
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

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

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

DP
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -1.16e-1

QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.719690455717971e-5
allele num: 58150
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 750
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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MQ
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FS
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ClippingRankSum
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SIO_000300: 3.47e-1

ReadPosRankSum
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SIO_000300: -1.16e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.724197386116763e-5
allele num: 57998
num of homozygotes: 0

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

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

Latino
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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VQSLOD
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 11
allele frequency: 1.90667683560979e-4
allele num: 57692
num of homozygotes: 0

South Asian
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allele num: 15574
num of homozygotes: 0

Latino
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allele frequency: 2.803738317757009e-4
allele num: 10700
num of homozygotes: 0

European (Finnish)
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African
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allele frequency: 2.645502645502646e-4
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East Asian
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Other
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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Latino
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African
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Other
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 15522
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 3.472222222222222e-5
allele num: 57600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

DP
type: SiteQuality
SIO_000300: 1.173223e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.851e-1

MQ
type: SiteQuality
SIO_000300: 5.152e1

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2947
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.910584638899503e-4
allele num: 57574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.47836227001814e-5
allele num: 15436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.05e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.462e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.153423e6

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeQuality
all individuals: 434
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 2984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.296176279974077e-4
allele num: 15430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.405e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.563e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 5.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

DP
type: SiteQuality
SIO_000300: 1.151869e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

GenotypeQuality
all individuals: 27870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9934
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1337
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 373
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 792
bin: 9.75e1
variant carriers: 487

GenotypeQuality
all individuals: 2916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.25e1
variant carriers: 6

African
type: Population
allele count: 14
allele frequency: 1.788451711803781e-3
allele num: 7828
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.42727390683794e-3
allele num: 15414
num of homozygotes: 1

Latino
type: Population
allele count: 52
allele frequency: 4.904734955668742e-3
allele num: 10602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 9.562841530054645e-3
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 398
allele frequency: 6.917167784768327e-3
allele num: 57538
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.015022330491271e-3
allele num: 4926
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.153493e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

MQ
type: SiteQuality
SIO_000300: 5.113e1

FS
type: SiteQuality
SIO_000300: 1.101e0

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.0e-1

GenotypeQuality
all individuals: 1020
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10516
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24984
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743557554834885e-5
allele num: 57354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.530120481927711e-4
allele num: 7968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.006e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.138344e6

GenotypeQuality
all individuals: 1753
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10536
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
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GenotypeQuality
all individuals: 2575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.541077969649399e-5
allele num: 15288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.127e0

MQ
type: SiteQuality
SIO_000300: 5.397e1

DP
type: SiteQuality
SIO_000300: 1.139225e6

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 990
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10696
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variant carriers: 0

GenotypeQuality
all individuals: 2599
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 289
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
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GenotypeQuality
all individuals: 1280
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3040
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.766005523474768e-4
allele num: 7966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.22538842053926e-5
allele num: 57412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15298
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.085e1

FS
type: SiteQuality
SIO_000300: 2.385e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.51e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

DP
type: SiteQuality
SIO_000300: 1.143383e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
all individuals: 262
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 643
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
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variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73816310922617e-5
allele num: 57532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

FS
type: SiteQuality
SIO_000300: 2.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.841e0

MQ
type: SiteQuality
SIO_000300: 5.111e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

DP
type: SiteQuality
SIO_000300: 1.143079e6

QD
type: SiteQuality
SIO_000300: 1.022e1

GenotypeQuality
all individuals: 271
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
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variant carriers: 0

GenotypeQuality
all individuals: 338
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variant carriers: 0

GenotypeQuality
all individuals: 639
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.539366989275438e-5
allele num: 15292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57534
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.01e1

VQSLOD
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SIO_000300: -1.374e0

MQRankSum
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SIO_000300: -1.31e-1

QD
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -3.1e-3

BaseQRankSum
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SIO_000300: -2.101e0

DP
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ReadPosRankSum
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SIO_000300: 5.25e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.740401684708831e-5
allele num: 57458
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.141691e6

MQ
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SIO_000300: 4.895e1

MQRankSum
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SIO_000300: -2.3e-2

InbreedingCoeff
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FS
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QD
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SIO_000300: 1.114e1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.249e0

VQSLOD
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SIO_000300: -4.592e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.740159398600912e-5
allele num: 57466
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 4.66e1

VQSLOD
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SIO_000300: -2.501e0

DP
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SIO_000300: 1.142305e6

FS
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BaseQRankSum
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SIO_000300: -2.489e0

MQRankSum
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SIO_000300: -1.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e0

QD
type: SiteQuality
SIO_000300: 5.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57478
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.564264145989234e-5
allele num: 15234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.143723e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
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SIO_000300: -4.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

VQSLOD
type: SiteQuality
SIO_000300: -1.91e0

MQ
type: SiteQuality
SIO_000300: 4.977e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.227027215388368e-5
allele num: 57394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.204e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

MQ
type: SiteQuality
SIO_000300: 4.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 1.79e0

QD
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SIO_000300: 1.162e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.953234660551734e-4
allele num: 57564
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.45398773006135e-4
allele num: 8150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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SIO_000300: 4.676e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.949270326615705e-5
allele num: 57560
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.574621959237344e-5
allele num: 15210
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

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

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

European (Non-Finnish)
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allele frequency: 6.943480072212192e-5
allele num: 57608
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.592827004219409e-5
allele num: 15168
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.81e-1

MQ
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SIO_000300: 5.156e1

DP
type: SiteQuality
SIO_000300: 1.171533e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
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variant carriers: 1

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

African
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allele frequency: 1.219512195121951e-4
allele num: 8200
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.211240310077519e-4
allele num: 8256
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 57820
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Other
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4736
num of homozygotes: 0

South Asian
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allele frequency: 1.975503753457131e-4
allele num: 15186
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10428
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Other
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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DP
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 57888
num of homozygotes: 0

Latino
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allele num: 10430
num of homozygotes: 0

Other
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African
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allele frequency: 2.41954996370675e-4
allele num: 8266
num of homozygotes: 0

European (Finnish)
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East Asian
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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African
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South Asian
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European (Non-Finnish)
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QD
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.884060757546626e-4
allele num: 10402
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African
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Other
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South Asian
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allele frequency: 1.516350210970464e-3
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European (Non-Finnish)
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allele frequency: 1.728728001936176e-5
allele num: 57846
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
type: SiteQuality
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VQSLOD
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DP
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SIO_000300: 1.188324e6

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 15154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.727831916511162e-5
allele num: 57876
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.2e-3

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
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SIO_000300: -7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.726817475392851e-5
allele num: 57910
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

African
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allele count: 8
allele frequency: 9.643201542912247e-4
allele num: 8296
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.344e1

InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: 3.2e-2

MQRankSum
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SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 1.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.041e-1

DP
type: SiteQuality
SIO_000300: 1.192388e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 320
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.72962501729625e-5
allele num: 57816
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 4.964e1

QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.731601731601731e-5
allele num: 57750
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -2.3e-3

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.461165720614703e-5
allele num: 57784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

South Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

VQSLOD
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MQ
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DP
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 465

European (Finnish)
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allele count: 3
allele frequency: 6.473888649115235e-4
allele num: 4634
num of homozygotes: 0

European (Non-Finnish)
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allele count: 364
allele frequency: 6.300411950012116e-3
allele num: 57774
num of homozygotes: 4

East Asian
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allele frequency: 0.0e0
allele num: 7926
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Other
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allele frequency: 5.46448087431694e-3
allele num: 732
num of homozygotes: 0

South Asian
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allele count: 84
allele frequency: 5.584363781412046e-3
allele num: 15042
num of homozygotes: 0

Latino
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allele count: 20
allele frequency: 1.941370607649e-3
allele num: 10302
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African
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allele count: 10
allele frequency: 1.201923076923077e-3
allele num: 8320
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QD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15030
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7922
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4638
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InbreedingCoeff
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SIO_000300: -1.4e-3

FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737559077008618e-5
allele num: 57552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.162629757785467e-4
allele num: 4624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.220468e6

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.45e1

FS
type: SiteQuality
SIO_000300: 4.637e0

QD
type: SiteQuality
SIO_000300: 4.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.528e0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 8.75e1
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GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
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variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 3.25e1
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GenotypeQuality
all individuals: 598
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 37783
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.08e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.957e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.8e0

FS
type: SiteQuality
SIO_000300: 1.569e0

MQ
type: SiteQuality
SIO_000300: 5.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.220926e6

GenotypeQuality
all individuals: 3064
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 790
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.75e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.274859765425803e-4
allele num: 7844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.697026520225021e-5
allele num: 14932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.394311210262131e-4
allele num: 57376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.511e1

DP
type: SiteQuality
SIO_000300: 1.218352e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.559e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 4.965e0

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1243
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variant carriers: 0

GenotypeQuality
all individuals: 650
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variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 88

GenotypeQuality
all individuals: 2986
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variant carriers: 0

GenotypeQuality
all individuals: 347
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variant carriers: 0

GenotypeQuality
all individuals: 35571
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variant carriers: 0

GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
all individuals: 263
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variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 1

GenotypeQuality
all individuals: 312
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variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11951
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.212121212121212e-4
allele num: 8250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57032
num of homozygotes: 0

East Asian
type: Population
allele count: 90
allele frequency: 1.15473441108545e-2
allele num: 7794
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.122e1

MQ
type: SiteQuality
SIO_000300: 5.429e1

VQSLOD
type: SiteQuality
SIO_000300: -1.226e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.646e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.212548e6

GenotypeQuality
all individuals: 492
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 611
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 996
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 641
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 1096
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variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.75e1
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GenotypeQuality
all individuals: 36611
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variant carriers: 0

GenotypeQuality
all individuals: 2998
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variant carriers: 0

GenotypeQuality
all individuals: 1039
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variant carriers: 0

GenotypeQuality
all individuals: 12055
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.507172167081682e-5
allele num: 57026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.668e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

QD
type: SiteQuality
SIO_000300: 8.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 1.212613e6

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -1.273e0

FS
type: SiteQuality
SIO_000300: 2.379e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 364
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.757669955399378e-5
allele num: 14798
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56914
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.211240310077519e-4
allele num: 8256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.98e0

MQ
type: SiteQuality
SIO_000300: 5.336e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.213129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 363
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variant carriers: 2

GenotypeQuality
all individuals: 933
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.529079616036138e-5
allele num: 56672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14766
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQ
type: SiteQuality
SIO_000300: 5.151e1

QD
type: SiteQuality
SIO_000300: 6.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.209137e6

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

FS
type: SiteQuality
SIO_000300: 3.763e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1018
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GenotypeQuality
all individuals: 112
bin: 9.25e1
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GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.764069264069264e-5
allele num: 14784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.42e1

FS
type: SiteQuality
SIO_000300: 5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.208662e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: -9.418e-1

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.994003597841295e-5
allele num: 10006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14750
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.488e0

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.428e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.204354e6

MQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
all individuals: 467
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13044
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 7.767995857068876e-4
allele num: 7724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.2063e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.512e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

VQSLOD
type: SiteQuality
SIO_000300: -1.127e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.639915522703273e-4
allele num: 7576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.364e0

MQ
type: SiteQuality
SIO_000300: 5.569e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

FS
type: SiteQuality
SIO_000300: 5.747e0

DP
type: SiteQuality
SIO_000300: 1.176245e6

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

GenotypeQuality
all individuals: 543
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 1