21-47856018-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856018
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856018
    reference: chr 21
allele count: 3
allele frequency: 2.637362637362637e-5
allele num: 113750
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8953G>C
  hgvsp: ENSP00000352572.5:p.Ala2985Pro
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8985G>C
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8650
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8546
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2985Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 3.41841385597083e-4
  allele num: 8776
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

21-47856020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856020
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856020
    reference: chr 21
allele count: 3
allele frequency: 2.644896231904502e-5
allele num: 113426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8955C>T
  hgvsp: ENST00000359568.5:c.8955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8987C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8645
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21634
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala2985Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6390
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-47856021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856021
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856021
    reference: chr 21
allele count: 25
allele frequency: 2.205091114364846e-4
allele num: 113374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8988G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8956G>A
  hgvsp: ENSP00000352572.5:p.Ala2986Thr
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8639
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala2986Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8306
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

21-47856021-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856021
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856021
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 113374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8988G>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8956G>C
  hgvsp: ENSP00000352572.5:p.Ala2986Pro
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8639
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala2986Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8670
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

21-47856021-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856021
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856021
    reference: chr 21
allele count: 1
allele frequency: 8.820364457459382e-6
allele num: 113374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8988G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8956G>T
  hgvsp: ENSP00000352572.5:p.Ala2986Ser
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2986Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11250
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

21-47856022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856022
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856022
    reference: chr 21
allele count: 2
allele frequency: 1.764041772509173e-5
allele num: 113376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8989C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8957C>T
  hgvsp: ENSP00000352572.5:p.Ala2986Val
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8615
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala2986Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61678
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

21-47856024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856024
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856024
    reference: chr 21
allele count: 7
allele frequency: 6.184401173269251e-5
allele num: 113188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8959C>T
  hgvsp: ENSP00000352572.5:p.Arg2987Trp
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8991C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8602
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 21890
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg2987Trp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.248229714805431e-5
  allele num: 61572
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

21-47856025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856025
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856025
    reference: chr 21
allele count: 10
allele frequency: 8.836264027569144e-5
allele num: 113170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8960G>A
  hgvsp: ENSP00000352572.5:p.Arg2987Gln
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.8992G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4783
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1207
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genotype quality: GenotypeQuality
  all individuals: 2853
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 22143
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg2987Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8638
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-47856030-C-CTCACCAGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856030
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856039
    reference: chr 21
allele count: 1
allele frequency: 8.853631759747848e-6
allele num: 112948
alternate allele: CTCACCAGCT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsp: ENSP00000352572.5:p.Phe2992_Ser2994dup
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8588
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe2992_Ser2994dup
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 820
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

21-47856030-CTCACCAGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856030
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856021
    reference: chr 21
allele count: 1
allele frequency: 8.853631759747848e-6
allele num: 112948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsp: ENSP00000352572.5:p.Phe2992_Ser2994del
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8588
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe2992_Ser2994del
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8590
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: CTCACCAGCT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/21-47856042-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856042
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856042
    reference: chr 21
allele count: 23
allele frequency: 2.086319188693964e-4
allele num: 110242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9009A>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8977A>C
  hgvsp: ENSP00000352572.5:p.Thr2993Pro
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8761
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19518
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21562
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 2
hgvs: p.Thr2993Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11160
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

21-47856042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856042
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856042
    reference: chr 21
allele count: 10
allele frequency: 9.070952994321583e-5
allele num: 110242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9009A>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8977A>G
  hgvsp: ENSP00000352572.5:p.Thr2993Ala
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8761
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2993Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8224
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

21-47856044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856044
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856044
    reference: chr 21
allele count: 1
allele frequency: 8.888572850743085e-6
allele num: 112504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9011C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8979C>T
  hgvsp: ENST00000359568.5:c.8979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr2993Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8292
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

21-47856052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856052
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856052
    reference: chr 21
allele count: 1
allele frequency: 8.906622964836652e-6
allele num: 112276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8987C>T
  hgvsp: ENSP00000352572.5:p.Ala2996Val
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9019C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8677
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala2996Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.187353050365054e-5
  allele num: 16162
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/21-47856053-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856053
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856053
    reference: chr 21
allele count: 1
allele frequency: 8.907892392659896e-6
allele num: 112260
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8988C>A
  hgvsp: ENST00000359568.5:c.8988C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9020C>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
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genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala2996Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

21-47856053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856053
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856053
    reference: chr 21
allele count: 3169
allele frequency: 2.822911099233921e-2
allele num: 112260
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9020C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8988C>T
  hgvsp: ENST00000359568.5:c.8988C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 2.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.75e1
  variant carriers: 436
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 423
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 3.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 167
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10425
  bin: 9.75e1
  variant carriers: 3091
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7818
  bin: 6.75e1
  variant carriers: 5
hgvs: p.Ala2996Ala
num of homozygotes: 48
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-47856054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856054
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856054
    reference: chr 21
allele count: 1
allele frequency: 8.92920922923066e-6
allele num: 111992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8989G>A
  hgvsp: ENSP00000352572.5:p.Val2997Met
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9021G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val2997Met
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.194251734390486e-5
  allele num: 16144
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

21-47856057-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856057
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856057
    reference: chr 21
allele count: 6
allele frequency: 5.358195359802819e-5
allele num: 111978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9024G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8992G>T
  hgvsp: ENSP00000352572.5:p.Asp2998Tyr
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20397
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp2998Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11182
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

21-47856061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856061
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856061
    reference: chr 21
allele count: 1
allele frequency: 8.939746111210441e-6
allele num: 111860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996G>A
  hgvsp: ENSP00000352572.5:p.Arg2999Lys
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8166
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg2999Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-47856069-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856069
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856069
    reference: chr 21
allele count: 6
allele frequency: 5.389867049946101e-5
allele num: 111320
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+8C>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+8C>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19768
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23279
  bin: 6.25e1
  variant carriers: 0
hgvs: c.8996+8C>G
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6066
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

21-47856071-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856071
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856071
    reference: chr 21
allele count: 3
allele frequency: 2.696338372490158e-5
allele num: 111262
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+10C>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+10C>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7627
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 544
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genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16062
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-47856073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856073
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856073
    reference: chr 21
allele count: 9
allele frequency: 8.106209356366977e-5
allele num: 111026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+12C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+12C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7624
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.24750499001996e-4
  allele num: 16032
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

21-47856074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856074
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856074
    reference: chr 21
allele count: 2
allele frequency: 1.802386359540031e-5
allele num: 110964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+13G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+13G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9229
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7615
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21820
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8248
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

21-47856083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856083
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856083
    reference: chr 21
allele count: 28
allele frequency: 2.532240852279921e-4
allele num: 110574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+22C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+22C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2871
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
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genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.221896383186706e-4
  allele num: 8184
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

21-47856084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856084
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856084
    reference: chr 21
allele count: 1
allele frequency: 9.047644898033042e-6
allele num: 110526
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+23G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+23G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
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genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2517
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6832
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8170
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

21-47856087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856087
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856087
    reference: chr 21
allele count: 1
allele frequency: 9.048463570885663e-6
allele num: 110516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+26C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+26C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9291
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6730
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 800
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

21-47856098-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856098
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856098
    reference: chr 21
allele count: 1
allele frequency: 9.089586969168121e-6
allele num: 110016
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+37T>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+37T>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 7582
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8184
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

21-47856102-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856102
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856103
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 109708
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+43dupC
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+43dupC
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
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genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2010
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5876
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/21-47856104-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856104
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856105
    reference: chr 21
allele count: 1
allele frequency: 9.126419158179096e-6
allele num: 109572
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+44dupA
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+44dupA
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7578
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11042
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-47856106-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856106
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856106
    reference: chr 21
allele count: 38958
allele frequency: 3.594574644768407e-1
allele num: 108380
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+45C>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+45C>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.25e1
  variant carriers: 6772
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 1.75e1
  variant carriers: 4719
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 1.25e1
  variant carriers: 2363
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 455
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  variant carriers: 196
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 3.25e1
  variant carriers: 4467
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 2464
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1097
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 6594
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 984
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 7.5e0
  variant carriers: 1169
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.5e0
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 386
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genotype depth: GenotypeDepth
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  variant carriers: 250
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 472
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 260
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 6.75e1
  variant carriers: 708
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 317
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 2.75e1
  variant carriers: 262
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.25e1
  variant carriers: 635
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.5e0
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 301
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 1.75e1
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 4.75e1
  variant carriers: 468
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 450
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.25e1
  variant carriers: 274
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 3.75e1
  variant carriers: 343
genotype quality: GenotypeQuality
  all individuals: 28757
  bin: 9.75e1
  variant carriers: 25897
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 539
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.75e1
  variant carriers: 462
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.25e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.5e0
  variant carriers: 215
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.75e1
  variant carriers: 384
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 9.25e1
  variant carriers: 455
genotype quality: GenotypeQuality
  all individuals: 5469
  bin: 6.25e1
  variant carriers: 686
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 670
num of homozygotes: 7116
population: East Asian
  type: Population
  allele count: 3625
  allele frequency: 4.513197211155379e-1
  allele num: 8032
  num of homozygotes: 789
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/21-47856107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856107
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856107
    reference: chr 21
allele count: 25
allele frequency: 2.291391699662707e-4
allele num: 109104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+46C>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+46C>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11940
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12498
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5237
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 24
  allele frequency: 2.942618930848455e-3
  allele num: 8156
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-47856107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856107
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856107
    reference: chr 21
allele count: 1
allele frequency: 9.165566798650828e-6
allele num: 109104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+46C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+46C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15892
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

21-47856108-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856108
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856106
    reference: chr 21
allele count: 1
allele frequency: 9.159690036089179e-6
allele num: 109174
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8996+50_8996+51delCT
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9028+50_9028+51delCT
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 361
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.679148335963999e-5
  allele num: 59554
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: CCT
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

21-47856850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856850
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856850
    reference: chr 21
allele count: 11
allele frequency: 9.143503125415613e-5
allele num: 120304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-42T>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-42T>C
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19148
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 550
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6586
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

21-47856854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856854
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856854
    reference: chr 21
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-38G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-38G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

21-47856855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856855
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856855
    reference: chr 21
allele count: 5
allele frequency: 4.154894465680572e-5
allele num: 120340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-37C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-37C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19823
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 38582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.508750754375377e-5
  allele num: 66280
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

21-47856856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856856
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856856
    reference: chr 21
allele count: 7
allele frequency: 5.812505189736777e-5
allele num: 120430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-36G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-36G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10252
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

21-47856857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856857
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856857
    reference: chr 21
allele count: 44
allele frequency: 3.651209878182361e-4
allele num: 120508
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-35C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-35C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20262
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24673
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

21-47856858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856858
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856858
    reference: chr 21
allele count: 76
allele frequency: 6.304437992534219e-4
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-34G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-34G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20463
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24983
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-47856858-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856858
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856858
    reference: chr 21
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-34G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-34G>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
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genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 534
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 624
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genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 590
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genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 40895
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.505933377507379e-5
  allele num: 66404
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-47856867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856867
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856867
    reference: chr 21
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-25T>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-25T>C
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 126
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 195
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11514
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

21-47856869-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856869
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856869
    reference: chr 21
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-23T>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-23T>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 98
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 537
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genotype quality: GenotypeQuality
  all individuals: 153
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

21-47856874-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856874
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856874
    reference: chr 21
allele count: 4
allele frequency: 3.302182742792986e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-18G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-18G>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6716
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10352
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

21-47856877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856877
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856877
    reference: chr 21
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-15C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-15C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2103
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
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genotype quality: GenotypeQuality
  all individuals: 128
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genotype quality: GenotypeQuality
  all individuals: 535
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

21-47856883-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856883
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856883
    reference: chr 21
allele count: 5
allele frequency: 4.123235255310727e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.8997-9T>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9029-9T>C
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21303
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7185
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43459
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 537
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.49947518368571e-5
  allele num: 66690
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

21-47856907-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856907
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856907
    reference: chr 21
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9012G>T
  hgvsp: ENSP00000352572.5:p.Trp3004Cys
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9044G>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26369
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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genotype depth: GenotypeDepth
  all individuals: 6745
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genotype depth: GenotypeDepth
  all individuals: 2359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
hgvs: p.Trp3004Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66714
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

21-47856909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856909
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856909
    reference: chr 21
allele count: 738
allele frequency: 6.08218365227711e-3
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9014C>T
  hgvsp: ENSP00000352572.5:p.Thr3005Met
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9046C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 40
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6711
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  variant carriers: 40
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 323
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genotype depth: GenotypeDepth
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  variant carriers: 29
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 48
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 36
genotype depth: GenotypeDepth
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  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 9.75e1
  variant carriers: 702
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Thr3005Met
num of homozygotes: 31
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

21-47856910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856910
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856910
    reference: chr 21
allele count: 357
allele frequency: 2.942194530979578e-3
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9015G>A
  hgvsp: ENST00000359568.5:c.9015G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9047G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21558
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 26050
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 9.75e1
  variant carriers: 346
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr3005Thr
num of homozygotes: 10
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

21-47856912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856912
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856912
    reference: chr 21
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9017C>T
  hgvsp: ENSP00000352572.5:p.Ser3006Leu
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9049C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser3006Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10396
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

21-47856918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856918
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856918
    reference: chr 21
allele count: 3
allele frequency: 2.472636159831201e-5
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9023A>G
  hgvsp: ENSP00000352572.5:p.Asn3008Ser
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9055A>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn3008Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

21-47856925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856925
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856925
    reference: chr 21
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9030A>G
  hgvsp: ENST00000359568.5:c.9030A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9062A>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys3010Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66702
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-47856927-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856927
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856927
    reference: chr 21
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9032C>G
  hgvsp: ENSP00000352572.5:p.Ala3011Gly
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9064C>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala3011Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

21-47856929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856929
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856929
    reference: chr 21
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9066G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9034G>A
  hgvsp: ENSP00000352572.5:p.Val3012Met
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val3012Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66694
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

21-47856930-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856930
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856930
    reference: chr 21
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9067T>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9035T>C
  hgvsp: ENSP00000352572.5:p.Val3012Ala
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Val3012Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66694
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

21-47856931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856931
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856931
    reference: chr 21
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9036G>A
  hgvsp: ENST00000359568.5:c.9036G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9068G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43849
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val3012Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-47856936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856936
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856936
    reference: chr 21
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9041C>T
  hgvsp: ENSP00000352572.5:p.Ser3014Phe
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9073C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7198
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser3014Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499745043342632e-5
  allele num: 66678
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

21-47856941-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856941
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856941
    reference: chr 21
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9078C>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9046C>G
  hgvsp: ENSP00000352572.5:p.Leu3016Val
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 515
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genotype quality: GenotypeQuality
  all individuals: 1235
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 752
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 43790
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2049
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu3016Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10382
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

21-47856948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856948
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856948
    reference: chr 21
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9053C>T
  hgvsp: ENSP00000352572.5:p.Thr3018Met
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9085C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 514
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr3018Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-47856954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856954
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856954
    reference: chr 21
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9059A>G
  hgvsp: ENSP00000352572.5:p.Glu3020Gly
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9091A>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.1A>G
  hgvsp: ENST00000418394.1:c.1A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43415
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu3020Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

21-47856955-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856955
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856955
    reference: chr 21
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9060G>C
  hgvsp: ENSP00000352572.5:p.Glu3020Asp
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9092G>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.2G>C
  hgvsp: ENST00000418394.1:c.2G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu3020Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

21-47856959-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856959
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856959
    reference: chr 21
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.6C>G
  hgvsp: ENSP00000404708.1:p.Leu3Val
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9064C>G
  hgvsp: ENSP00000352572.5:p.Leu3022Val
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9096C>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu3022Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

21-47856966-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856966
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856966
    reference: chr 21
allele count: 3
allele frequency: 2.486861083939851e-5
allele num: 120634
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9071C>G
  hgvsp: ENSP00000352572.5:p.Ser3024Cys
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.13C>G
  hgvsp: ENSP00000404708.1:p.Ser5Cys
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9103C>G
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser3024Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-47856968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856968
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856968
    reference: chr 21
allele count: 3
allele frequency: 2.489419965148121e-5
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9105G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.15G>A
  hgvsp: ENSP00000404708.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9073G>A
  hgvsp: ENSP00000352572.5:p.Asp3025Asn
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 246
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genotype quality: GenotypeQuality
  all individuals: 510
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7010
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp3025Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/21-47856981-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856981
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856981
    reference: chr 21
allele count: 2
allele frequency: 1.673528132007899e-5
allele num: 119508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.28C>A
  hgvsp: ENSP00000404708.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9086C>A
  hgvsp: ENSP00000352572.5:p.Pro3029His
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9118C>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro3029His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

21-47856982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856982
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856982
    reference: chr 21
allele count: 2
allele frequency: 1.67372420372571e-5
allele num: 119494
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9087C>T
  hgvsp: ENST00000359568.5:c.9087C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9119C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.29C>T
  hgvsp: ENST00000418394.1:c.29C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro3029Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

21-47856983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856983
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856983
    reference: chr 21
allele count: 2
allele frequency: 1.674088458834165e-5
allele num: 119468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9120A>G
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9088A>G
  hgvsp: ENSP00000352572.5:p.Thr3030Ala
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.30A>G
  hgvsp: ENSP00000404708.1:p.Thr11Ala
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr3030Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

21-47856998-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47856998
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47856998
    reference: chr 21
allele count: 1
allele frequency: 8.551540132377842e-6
allele num: 116938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+4A>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+4A>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+4A>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5396
  bin: 2.25e1
  variant carriers: 0
hgvs: c.9099+4A>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

21-47857000-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857000
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857000
    reference: chr 21
allele count: 3
allele frequency: 2.57360510603253e-5
allele num: 116568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+6G>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+6G>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+6G>C
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19299
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18788
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 6.75e1
  variant carriers: 0
hgvs: c.9099+6G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

21-47857002-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857002
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857002
    reference: chr 21
allele count: 8
allele frequency: 6.87604215013838e-5
allele num: 116346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+8G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+8G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+8G>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19057
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
hgvs: c.9099+8G>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

21-47857006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857006
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857006
    reference: chr 21
allele count: 162
allele frequency: 1.40403182472136e-3
allele num: 115382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+12G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+12G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+12G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 17293
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 7938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

21-47857007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857007
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857007
    reference: chr 21
allele count: 20
allele frequency: 1.737861040631191e-4
allele num: 115084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+13C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+13C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+13C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16826
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17289
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 9.75e1
  variant carriers: 18
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

21-47857008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857008
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857008
    reference: chr 21
allele count: 25
allele frequency: 2.178801136462673e-4
allele num: 114742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+14G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+14G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+14G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16584
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 9.75e1
  variant carriers: 24
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

21-47857008-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857008
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857008
    reference: chr 21
allele count: 1
allele frequency: 8.715204545850691e-6
allele num: 114742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+14G>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+14G>C
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+14G>C
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

21-47857009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857009
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857009
    reference: chr 21
allele count: 1
allele frequency: 8.725242125468982e-6
allele num: 114610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+15C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+15C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+15C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

21-47857016-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857016
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857016
    reference: chr 21
allele count: 1
allele frequency: 8.790281464812504e-6
allele num: 113762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+22G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+22G>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+22G>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

21-47857022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857022
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857022
    reference: chr 21
allele count: 1
allele frequency: 8.888098835659053e-6
allele num: 112510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+28G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+28G>A
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+28G>A
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

21-47857034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47857034
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47857034
    reference: chr 21
allele count: 2
allele frequency: 1.825583730397795e-5
allele num: 109554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl transcript: ENST00000480896
  gene symbol: PCNT
  hgvsc: ENST00000480896.1:n.9131+40C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000352572
  ensembl transcript: ENST00000359568
  gene symbol: PCNT
  hgvsc: ENST00000359568.5:c.9099+40C>T
  variant of: http://identifiers.org/hgnc/16068
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160299
  ensembl protein: ENSP00000404708
  ensembl transcript: ENST00000418394
  gene symbol: PCNT
  hgvsc: ENST00000418394.1:c.41+40C>T
  variant of: http://identifiers.org/hgnc/16068
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 1.893e0

DP
type: SiteQuality
SIO_000300: 1.899517e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 1.739e1

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.860031104199067e-5
allele num: 61728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 3.552e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

QD
type: SiteQuality
SIO_000300: 1.205e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.895177e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.306805074971165e-4
allele num: 8670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.296974806264388e-4
allele num: 61682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.244444444444445e-3
allele num: 11250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.563966218329684e-4
allele num: 6394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.894156e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
type: SiteQuality
SIO_000300: 1.894156e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.153402537485582e-4
allele num: 8670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61682
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

QD
type: SiteQuality
SIO_000300: 1.197e1

FS
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.894156e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.305209774089442e-4
allele num: 8676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.89116e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.196e0

QD
type: SiteQuality
SIO_000300: 1.786e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.122e-1

South Asian
type: Population
allele count: 5
allele frequency: 3.078817733990148e-4
allele num: 16240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.889047e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 1.173e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.177e1

East Asian
type: Population
allele count: 8
allele frequency: 9.650180940892642e-4
allele num: 8290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.566416040100251e-4
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624853763161316e-5
allele num: 61544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

DP
type: SiteQuality
SIO_000300: 1.887691e6

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.106999999999999e0

QD
type: SiteQuality
SIO_000300: 7.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 4.785e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.296e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.880703e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628081143564195e-5
allele num: 61422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 7.26e0

MQRankSum
type: SiteQuality
SIO_000300: -3.296e0

FS
type: SiteQuality
SIO_000300: 8.106999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 1.880703e6

MQ
type: SiteQuality
SIO_000300: 4.785e1

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.906077348066298e-4
allele num: 5792
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.595284872298625e-4
allele num: 8144
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.500350081685727e-4
allele num: 59986
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.590673575129534e-3
allele num: 772
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.737e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

DP
type: SiteQuality
SIO_000300: 1.870974e6

VQSLOD
type: SiteQuality
SIO_000300: -3.431e0

FS
type: SiteQuality
SIO_000300: 2.3186e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.667055646317474e-4
allele num: 59986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.737e0

FS
type: SiteQuality
SIO_000300: 2.3186e1

VQSLOD
type: SiteQuality
SIO_000300: -3.431e0

DP
type: SiteQuality
SIO_000300: 1.870974e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 4.81e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63377336295909e-5
allele num: 61208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.875204e6

QD
type: SiteQuality
SIO_000300: 2.373e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -2.332e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61124
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.236e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.889e0

QD
type: SiteQuality
SIO_000300: 6.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

DP
type: SiteQuality
SIO_000300: 1.871479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 1.614e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

African
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

FS
type: SiteQuality
SIO_000300: 1.195e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 1.892051e6

QD
type: SiteQuality
SIO_000300: 1.311e1

European (Non-Finnish)
type: Population
allele count: 2643
allele frequency: 4.323148390473698e-2
allele num: 61136
num of homozygotes: 42

South Asian
type: Population
allele count: 138
allele frequency: 8.540660972892685e-3
allele num: 16158
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 167
allele frequency: 2.709279688513952e-2
allele num: 6164
num of homozygotes: 1

African
type: Population
allele count: 45
allele frequency: 5.291627469426153e-3
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 19
allele frequency: 2.322738386308068e-2
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 157
allele frequency: 1.401535440099982e-2
allele num: 11202
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 1.195e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

DP
type: SiteQuality
SIO_000300: 1.892051e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

DP
type: SiteQuality
SIO_000300: 1.836856e6

FS
type: SiteQuality
SIO_000300: 2.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.270111183780249e-4
allele num: 6116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.559097468188377e-5
allele num: 60984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.092e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.469e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 7.817e0

VQSLOD
type: SiteQuality
SIO_000300: -1.05e-1

DP
type: SiteQuality
SIO_000300: 1.835441e6

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641227638273429e-5
allele num: 60930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 4.566e0

DP
type: SiteQuality
SIO_000300: 1.83055e6

MQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.831e0

Latino
type: Population
allele count: 6
allele frequency: 5.385029617662897e-4
allele num: 11142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

DP
type: SiteQuality
SIO_000300: 1.811614e6

QD
type: SiteQuality
SIO_000300: 1.197e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.948045522018802e-5
allele num: 60630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.522e0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

FS
type: SiteQuality
SIO_000300: 1.7953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

DP
type: SiteQuality
SIO_000300: 1.808177e6

QD
type: SiteQuality
SIO_000300: 2.696e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.992805755395684e-5
allele num: 11120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652127940787734e-5
allele num: 60528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.836759371221282e-4
allele num: 8270
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.214181641573579e-4
allele num: 8236
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 2.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.791036e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.099e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.247972045426183e-4
allele num: 16026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.789661e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 8.29e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

MQ
type: SiteQuality
SIO_000300: 5.888e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.50093808630394e-3
allele num: 15990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.974959371165136e-5
allele num: 60302
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

FS
type: SiteQuality
SIO_000300: 2.055e0

DP
type: SiteQuality
SIO_000300: 1.763826e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.025270758122743e-5
allele num: 11080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.759488e6

QD
type: SiteQuality
SIO_000300: 7.04e0

FS
type: SiteQuality
SIO_000300: 9.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: -7.141e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658649859014762e-5
allele num: 60290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 1.706e0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.113e1

DP
type: SiteQuality
SIO_000300: 1.748604e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11070
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: 1
allele frequency: 1.66616681662168e-5
allele num: 60018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.391e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 1.699238e6

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.199e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
SIO_000300: 1.24e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.68464e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

QD
type: SiteQuality
SIO_000300: 1.241e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.67369619066747e-5
allele num: 59748
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 3.561e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.678559e6

QD
type: SiteQuality
SIO_000300: 3.091e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

European (Non-Finnish)
type: Population
allele count: 23649
allele frequency: 4.003419555796316e-1
allele num: 59072
num of homozygotes: 4612

Other
type: Population
allele count: 304
allele frequency: 3.897435897435897e-1
allele num: 780
num of homozygotes: 64

African
type: Population
allele count: 1769
allele frequency: 2.226277372262774e-1
allele num: 7946
num of homozygotes: 173

Latino
type: Population
allele count: 2637
allele frequency: 2.418822234452394e-1
allele num: 10902
num of homozygotes: 331

European (Finnish)
type: Population
allele count: 1912
allele frequency: 3.31369150779896e-1
allele num: 5770
num of homozygotes: 284

South Asian
type: Population
allele count: 5062
allele frequency: 3.18805894948986e-1
allele num: 15878
num of homozygotes: 863

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.68e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

DP
type: SiteQuality
SIO_000300: 1.711711e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.081002542680712e-5
allele num: 11012
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.64716e6

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.71939477303989e-4
allele num: 5816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.64716e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.646841e6

FS
type: SiteQuality
SIO_000300: 2.865e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.121e1

African
type: Population
allele count: 10
allele frequency: 9.759906304899473e-4
allele num: 10246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.585995e6

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 7.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.78e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.562e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.600518e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.31e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.450680063717682e-4
allele num: 16322
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 4.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.605695e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.41e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014863275950436e-5
allele num: 66338
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.450980392156863e-4
allele num: 16320
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.614316e6

QD
type: SiteQuality
SIO_000300: 1.694e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 39
allele frequency: 4.543336439888164e-3
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.898635477582846e-4
allele num: 10260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.957e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

DP
type: SiteQuality
SIO_000300: 1.618507e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

East Asian
type: Population
allele count: 69
allele frequency: 8.023255813953488e-3
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.529666887536896e-5
allele num: 66404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.989e1

DP
type: SiteQuality
SIO_000300: 1.625762e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.625762e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 1.578e0

DP
type: SiteQuality
SIO_000300: 1.639166e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.64082e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.215e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001500375093773e-5
allele num: 66650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.644957e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

FS
type: SiteQuality
SIO_000300: 6.772e0

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.601e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 1.646783e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

VQSLOD
type: SiteQuality
SIO_000300: -1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.19e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
type: Population
allele count: 4
allele frequency: 2.426889940541196e-4
allele num: 16482
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.492e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

DP
type: SiteQuality
SIO_000300: 1.648122e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.203e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.649885e6

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

FS
type: SiteQuality
SIO_000300: 6.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e0

Latino
type: Population
allele count: 35
allele frequency: 3.026111015044095e-3
allele num: 11566
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Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
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African
type: Population
allele count: 693
allele frequency: 6.666025394382455e-2
allele num: 10396
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199148604490812e-4
allele num: 66714
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 1.679378e6

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494903465643362e-5
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 331
allele frequency: 3.183916891111966e-2
allele num: 10396
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South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 19
allele frequency: 1.642745979595366e-3
allele num: 11566
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Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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QD
type: SiteQuality
SIO_000300: 1.215e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

DP
type: SiteQuality
SIO_000300: 1.660925e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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MQ
type: SiteQuality
SIO_000300: 5.567e1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.487e0

QD
type: SiteQuality
SIO_000300: 8.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.643923e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.669e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.312e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

DP
type: SiteQuality
SIO_000300: 1.643752e6

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

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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allele num: 16486
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 1.643542e6

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

FS
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

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

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

South Asian
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allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.643305e6

VQSLOD
type: SiteQuality
SIO_000300: -5.206e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

FS
type: SiteQuality
SIO_000300: 5.89e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 1.64318e6

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.299e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

FS
type: SiteQuality
SIO_000300: 7.49e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

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

South Asian
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allele count: 4
allele frequency: 2.427184466019417e-4
allele num: 16480
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Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.64326e6

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

FS
type: SiteQuality
SIO_000300: 7.951e0

DP
type: SiteQuality
SIO_000300: 1.642939e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

QD
type: SiteQuality
SIO_000300: 6.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.342e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.074e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.452e-1

QD
type: SiteQuality
SIO_000300: 1.682e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.07e-1

DP
type: SiteQuality
SIO_000300: 1.642573e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
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
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.641975e6

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.549e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.741e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.640445e6

QD
type: SiteQuality
SIO_000300: 1.058e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 5.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

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

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

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

East Asian
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Latino
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African
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allele frequency: 9.654373431164318e-5
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European (Finnish)
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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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Other
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66406
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African
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Other
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Latino
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South Asian
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European (Finnish)
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East Asian
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InbreedingCoeff
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MQ
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QD
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FS
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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allele num: 6566
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East Asian
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European (Non-Finnish)
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African
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South Asian
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Other
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ReadPosRankSum
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MQ
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FS
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QD
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.518971959777622e-5
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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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European (Finnish)
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allele frequency: 1.537042729787888e-4
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East Asian
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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FS
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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GenotypeQuality
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African
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Latino
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allele frequency: 8.827683615819209e-5
allele num: 11328
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European (Non-Finnish)
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allele frequency: 1.519064256418047e-5
allele num: 65830
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6500
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African
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South Asian
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allele frequency: 1.23395853899309e-4
allele num: 16208
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East Asian
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Latino
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Other
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allele num: 898
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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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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allele frequency: 1.554823061135643e-5
allele num: 64316
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Latino
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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QD
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VQSLOD
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GenotypeQuality
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African
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European (Non-Finnish)
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allele frequency: 4.683548256158866e-5
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Other
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East Asian
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Latino
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South Asian
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European (Finnish)
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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InbreedingCoeff
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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allele frequency: 1.25136868449867e-4
allele num: 63930
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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East Asian
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MQ
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InbreedingCoeff
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FS
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQ
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GenotypeQuality
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Other
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South Asian
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 3.493838140007623e-4
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Latino
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European (Finnish)
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.201324990798675e-5
allele num: 10868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62968
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.853e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 1.452377e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1053
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.226794611551947e-5
allele num: 10838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.224e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.506e0

MQRankSum
type: SiteQuality
SIO_000300: -1.451e0

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 1.433772e6

GenotypeQuality
all individuals: 2788
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62394
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.039933444259567e-4
allele num: 9616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.28e0

DP
type: SiteQuality
SIO_000300: 1.378439e6

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.314725940894166e-5
allele num: 15836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.57e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.742e0

MQRankSum
type: SiteQuality
SIO_000300: -1.279e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.31178e6

QD
type: SiteQuality
SIO_000300: 1.466e1