22-50879499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50879499
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50879499
    reference: chr 22
allele count: 1
allele frequency: 1.0827197921178e-4
allele num: 9236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1755+44C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1386+44C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2498+44C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000473283
  gene symbol: PPP6R2
  hgvsc: ENST00000473283.1:n.546C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2600+44C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2501+44C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2501+44C>T
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20004
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28529
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

22-50882249-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882249
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882247
    reference: chr 22
allele count: 1
allele frequency: 3.744757339724386e-5
allele num: 26704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.735_736delTG
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-45_2601-44delTG
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-45_2502-44delTG
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-45_1387-44delTG
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-45_1756-44delTG
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-45_2502-44delTG
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-45_2499-44delTG
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28548
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6709
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CTG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-50882253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882253
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882253
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 26902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-42G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-42G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-42G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.738G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-42G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-42G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-42G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28880
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5322
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

22-50882258-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882258
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882258
    reference: chr 22
allele count: 1
allele frequency: 3.668647736444347e-5
allele num: 27258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-37G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-37G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-37G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.743G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-37G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-37G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-37G>T
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29360
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13581
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

22-50882260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882260
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882260
    reference: chr 22
allele count: 1
allele frequency: 3.637157197934095e-5
allele num: 27494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.745G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-35G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-35G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-35G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-35G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-35G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-35G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

22-50882267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882267
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882267
    reference: chr 22
allele count: 3
allele frequency: 1.046901172529313e-4
allele num: 28656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-28G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-28G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-28G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-28G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.752G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-28G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-28G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

22-50882272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882272
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882272
    reference: chr 22
allele count: 13
allele frequency: 4.385077244822236e-4
allele num: 29646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-23C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-23C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.757C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-23C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-23C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-23C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-23C>T
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13430
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31448
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28805
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12013
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-50882273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882273
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882273
    reference: chr 22
allele count: 12
allele frequency: 3.999733351109926e-4
allele num: 30002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-22G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-22G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-22G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-22G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.758G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-22G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-22G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31591
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13102
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

22-50882281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882281
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882281
    reference: chr 22
allele count: 2
allele frequency: 6.2266500622665e-5
allele num: 32120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-14T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-14T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-14T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-14T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.766T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-14T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-14T>C
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32346
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10739
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

22-50882285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882285
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882285
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 32828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-10T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-10T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.770T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-10T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-10T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-10T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-10T>C
  variant of: http://identifiers.org/hgnc/19253
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32542
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

22-50882287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882287
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882287
    reference: chr 22
allele count: 1
allele frequency: 3.02571860816944e-5
allele num: 33050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-8C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-8C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-8C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-8C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-8C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-8C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.772C>T
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2502-8C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/22-50882287-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882287
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882287
    reference: chr 22
allele count: 2
allele frequency: 6.051437216338881e-5
allele num: 33050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2601-8C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1756-8C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1387-8C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2499-8C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.772C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2502-8C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2502-8C>A
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2502-8C>A
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

22-50882298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882298
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882298
    reference: chr 22
allele count: 8
allele frequency: 2.230773520718309e-4
allele num: 35862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2505C>T
  hgvsp: ENST00000359139.3:c.2505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2505C>T
  hgvsp: ENST00000395741.3:c.2505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2604C>T
  hgvsp: ENST00000216061.5:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2502C>T
  hgvsp: ENST00000395744.3:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1759C>T
  hgvsp: ENST00000401672.3:c.1759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1390C>T
  hgvsp: ENST00000427222.2:c.1390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.783C>T
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32246
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val835Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-50882299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882299
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882299
    reference: chr 22
allele count: 27
allele frequency: 7.42084432717678e-4
allele num: 36384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2506G>A
  hgvsp: ENSP00000352051.3:p.Gly836Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1391G>A
  hgvsp: ENSP00000391595.2:p.Gly465Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1760G>A
  hgvsp: ENSP00000384532.3:p.Gly588Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2503G>A
  hgvsp: ENSP00000379093.3:p.Gly835Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.784G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2605G>A
  hgvsp: ENSP00000216061.5:p.Gly869Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2506G>A
  hgvsp: ENSP00000379090.3:p.Gly836Arg
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32235
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly836Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

22-50882301-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882301
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882301
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 37060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1393G>T
  hgvsp: ENST00000427222.2:c.1393G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1762G>T
  hgvsp: ENST00000401672.3:c.1762G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2607G>T
  hgvsp: ENST00000216061.5:c.2607G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.786G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2505G>T
  hgvsp: ENST00000395744.3:c.2505G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2508G>T
  hgvsp: ENST00000359139.3:c.2508G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2508G>T
  hgvsp: ENST00000395741.3:c.2508G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32263
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9010
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly836Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

22-50882314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882314
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882314
    reference: chr 22
allele count: 3
allele frequency: 7.583417593528817e-5
allele num: 39560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1406C>T
  hgvsp: ENSP00000391595.2:p.Arg470Trp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2521C>T
  hgvsp: ENSP00000379090.3:p.Arg841Trp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1775C>T
  hgvsp: ENSP00000384532.3:p.Arg593Trp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2521C>T
  hgvsp: ENSP00000352051.3:p.Arg841Trp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2620C>T
  hgvsp: ENSP00000216061.5:p.Arg874Trp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.799C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2518C>T
  hgvsp: ENSP00000379093.3:p.Arg840Trp
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg841Trp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

22-50882315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882315
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882315
    reference: chr 22
allele count: 3
allele frequency: 7.502250675202561e-5
allele num: 39988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.800G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2522G>A
  hgvsp: ENSP00000352051.3:p.Arg841Gln
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1407G>A
  hgvsp: ENSP00000391595.2:p.Arg470Gln
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2522G>A
  hgvsp: ENSP00000379090.3:p.Arg841Gln
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1776G>A
  hgvsp: ENSP00000384532.3:p.Arg593Gln
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2519G>A
  hgvsp: ENSP00000379093.3:p.Arg840Gln
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2621G>A
  hgvsp: ENSP00000216061.5:p.Arg874Gln
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5864
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg841Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/22-50882317-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882317
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882317
    reference: chr 22
allele count: 5
allele frequency: 1.241310824230387e-4
allele num: 40280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.802C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1409C>A
  hgvsp: ENSP00000391595.2:p.Leu471Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2521C>A
  hgvsp: ENSP00000379093.3:p.Leu841Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1778C>A
  hgvsp: ENSP00000384532.3:p.Leu594Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2524C>A
  hgvsp: ENSP00000352051.3:p.Leu842Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2623C>A
  hgvsp: ENSP00000216061.5:p.Leu875Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2524C>A
  hgvsp: ENSP00000379090.3:p.Leu842Met
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31650
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu842Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

22-50882319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882319
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882319
    reference: chr 22
allele count: 1
allele frequency: 2.448579823702253e-5
allele num: 40840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2625G>A
  hgvsp: ENST00000216061.5:c.2625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1780G>A
  hgvsp: ENST00000401672.3:c.1780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2526G>A
  hgvsp: ENST00000359139.3:c.2526G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1411G>A
  hgvsp: ENST00000427222.2:c.1411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2526G>A
  hgvsp: ENST00000395741.3:c.2526G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2523G>A
  hgvsp: ENST00000395744.3:c.2523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.804G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu842Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/22-50882323-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882323
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882323
    reference: chr 22
allele count: 23
allele frequency: 5.517439907882743e-4
allele num: 41686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.808A>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2530A>C
  hgvsp: ENSP00000379090.3:p.Ser844Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1784A>C
  hgvsp: ENSP00000384532.3:p.Ser596Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2629A>C
  hgvsp: ENSP00000216061.5:p.Ser877Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1415A>C
  hgvsp: ENSP00000391595.2:p.Ser473Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2530A>C
  hgvsp: ENSP00000352051.3:p.Ser844Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2527A>C
  hgvsp: ENSP00000379093.3:p.Ser843Arg
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 31743
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Ser844Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

22-50882328-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882328
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882328
    reference: chr 22
allele count: 1
allele frequency: 2.318894351173361e-5
allele num: 43124
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2535T>C
  hgvsp: ENST00000395741.3:c.2535T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2535T>C
  hgvsp: ENST00000359139.3:c.2535T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1789T>C
  hgvsp: ENST00000401672.3:c.1789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2532T>C
  hgvsp: ENST00000395744.3:c.2532T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1420T>C
  hgvsp: ENST00000427222.2:c.1420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2634T>C
  hgvsp: ENST00000216061.5:c.2634T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.813T>C
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31476
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro845Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

22-50882332-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882332
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882332
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 44432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2638T>C
  hgvsp: ENSP00000216061.5:p.Cys880Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2539T>C
  hgvsp: ENSP00000379090.3:p.Cys847Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1793T>C
  hgvsp: ENSP00000384532.3:p.Cys599Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2539T>C
  hgvsp: ENSP00000352051.3:p.Cys847Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2536T>C
  hgvsp: ENSP00000379093.3:p.Cys846Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.817T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1424T>C
  hgvsp: ENSP00000391595.2:p.Cys476Arg
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31224
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys847Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-50882335-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882335
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882335
    reference: chr 22
allele count: 3
allele frequency: 6.579235931400501e-5
allele num: 45598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1796C>G
  hgvsp: ENSP00000384532.3:p.Pro600Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.820C>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2539C>G
  hgvsp: ENSP00000379093.3:p.Pro847Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2542C>G
  hgvsp: ENSP00000352051.3:p.Pro848Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2542C>G
  hgvsp: ENSP00000379090.3:p.Pro848Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1427C>G
  hgvsp: ENSP00000391595.2:p.Pro477Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2641C>G
  hgvsp: ENSP00000216061.5:p.Pro881Ala
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro848Ala
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-50882336-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882336
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882336
    reference: chr 22
allele count: 11
allele frequency: 2.383118852636596e-4
allele num: 46158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.821C>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1797C>G
  hgvsp: ENSP00000384532.3:p.Pro600Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2543C>G
  hgvsp: ENSP00000352051.3:p.Pro848Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2543C>G
  hgvsp: ENSP00000379090.3:p.Pro848Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2540C>G
  hgvsp: ENSP00000379093.3:p.Pro847Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1428C>G
  hgvsp: ENSP00000391595.2:p.Pro477Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2642C>G
  hgvsp: ENSP00000216061.5:p.Pro881Arg
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30805
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 6182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Pro848Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

22-50882337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882337
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882337
    reference: chr 22
allele count: 8
allele frequency: 1.722356183258698e-4
allele num: 46448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.822C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2541C>T
  hgvsp: ENST00000395744.3:c.2541C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2544C>T
  hgvsp: ENST00000359139.3:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1798C>T
  hgvsp: ENST00000401672.3:c.1798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2643C>T
  hgvsp: ENST00000216061.5:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1429C>T
  hgvsp: ENST00000427222.2:c.1429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2544C>T
  hgvsp: ENST00000395741.3:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30645
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11084
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro848Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

22-50882338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882338
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882338
    reference: chr 22
allele count: 1504
allele frequency: 3.11942589289418e-2
allele num: 48214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2542G>A
  hgvsp: ENSP00000379093.3:p.Ala848Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1430G>A
  hgvsp: ENSP00000391595.2:p.Ala478Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.823G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2644G>A
  hgvsp: ENSP00000216061.5:p.Ala882Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2545G>A
  hgvsp: ENSP00000379090.3:p.Ala849Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1799G>A
  hgvsp: ENSP00000384532.3:p.Ala601Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2545G>A
  hgvsp: ENSP00000352051.3:p.Ala849Thr
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 2.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 1.75e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29913
  bin: 7.5e0
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 1.25e1
  variant carriers: 757
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 28890
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 55
hgvs: p.Ala849Thr
num of homozygotes: 14
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

22-50882339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882339
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882339
    reference: chr 22
allele count: 4
allele frequency: 8.088324503579083e-5
allele num: 49454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.824C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2546C>T
  hgvsp: ENSP00000379090.3:p.Ala849Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1431C>T
  hgvsp: ENSP00000391595.2:p.Ala478Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2546C>T
  hgvsp: ENSP00000352051.3:p.Ala849Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2543C>T
  hgvsp: ENSP00000379093.3:p.Ala848Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1800C>T
  hgvsp: ENSP00000384532.3:p.Ala601Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2645C>T
  hgvsp: ENSP00000216061.5:p.Ala882Val
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala849Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

22-50882340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882340
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882340
    reference: chr 22
allele count: 42
allele frequency: 8.515815085158151e-4
allele num: 49320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1432G>A
  hgvsp: ENST00000427222.2:c.1432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.825G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2646G>A
  hgvsp: ENST00000216061.5:c.2646G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2544G>A
  hgvsp: ENST00000395744.3:c.2544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2547G>A
  hgvsp: ENST00000359139.3:c.2547G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2547G>A
  hgvsp: ENST00000395741.3:c.2547G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1801G>A
  hgvsp: ENST00000401672.3:c.1801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29508
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 2
hgvs: p.Ala849Ala
num of homozygotes: 3
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

22-50882342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882342
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882342
    reference: chr 22
allele count: 1
allele frequency: 1.927599367747408e-5
allele num: 51878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1803C>T
  hgvsp: ENSP00000384532.3:p.Pro602Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2549C>T
  hgvsp: ENSP00000379090.3:p.Pro850Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1434C>T
  hgvsp: ENSP00000391595.2:p.Pro479Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2648C>T
  hgvsp: ENSP00000216061.5:p.Pro883Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.827C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2546C>T
  hgvsp: ENSP00000379093.3:p.Pro849Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2549C>T
  hgvsp: ENSP00000352051.3:p.Pro850Leu
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro850Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

22-50882344-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882344
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882341
    reference: chr 22
allele count: 1
allele frequency: 1.886223027010714e-5
allele num: 53016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2553_2555delGGA
  hgvsp: ENSP00000352051.3:p.Glu852del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1438_1440delGGA
  hgvsp: ENSP00000391595.2:p.Glu481del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2652_2654delGGA
  hgvsp: ENSP00000216061.5:p.Glu885del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.831_833delGGA
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1807_1809delGGA
  hgvsp: ENSP00000384532.3:p.Glu604del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2553_2555delGGA
  hgvsp: ENSP00000379090.3:p.Glu852del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2550_2552delGGA
  hgvsp: ENSP00000379093.3:p.Glu851del
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu852del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: AAGG
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

22-50882345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882345
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882345
    reference: chr 22
allele count: 1
allele frequency: 1.884800965018094e-5
allele num: 53056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2549A>G
  hgvsp: ENSP00000379093.3:p.Lys850Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1806A>G
  hgvsp: ENSP00000384532.3:p.Lys603Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.830A>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2552A>G
  hgvsp: ENSP00000352051.3:p.Lys851Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2651A>G
  hgvsp: ENSP00000216061.5:p.Lys884Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1437A>G
  hgvsp: ENSP00000391595.2:p.Lys480Arg
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2552A>G
  hgvsp: ENSP00000379090.3:p.Lys851Arg
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys851Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/22-50882349-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882349
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882349
    reference: chr 22
allele count: 1
allele frequency: 1.804272517321016e-5
allele num: 55424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.834A>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2556A>C
  hgvsp: ENSP00000379090.3:p.Glu852Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1810A>C
  hgvsp: ENSP00000384532.3:p.Glu604Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2553A>C
  hgvsp: ENSP00000379093.3:p.Glu851Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2556A>C
  hgvsp: ENSP00000352051.3:p.Glu852Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1441A>C
  hgvsp: ENSP00000391595.2:p.Glu481Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2655A>C
  hgvsp: ENSP00000216061.5:p.Glu885Asp
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu852Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

22-50882352-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882352
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882352
    reference: chr 22
allele count: 1
allele frequency: 1.782976143779196e-5
allele num: 56086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2559G>C
  hgvsp: ENST00000359139.3:c.2559G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1444G>C
  hgvsp: ENST00000427222.2:c.1444G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.837G>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2658G>C
  hgvsp: ENST00000216061.5:c.2658G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1813G>C
  hgvsp: ENST00000401672.3:c.1813G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2559G>C
  hgvsp: ENST00000395741.3:c.2559G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2556G>C
  hgvsp: ENST00000395744.3:c.2556G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val853Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

22-50882362-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882362
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882362
    reference: chr 22
allele count: 1
allele frequency: 1.534260026389273e-5
allele num: 65178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2569C>G
  hgvsp: ENSP00000352051.3:p.Pro857Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2569C>G
  hgvsp: ENSP00000379090.3:p.Pro857Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1823C>G
  hgvsp: ENSP00000384532.3:p.Pro609Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1454C>G
  hgvsp: ENSP00000391595.2:p.Pro486Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2668C>G
  hgvsp: ENSP00000216061.5:p.Pro890Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.847C>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2566C>G
  hgvsp: ENSP00000379093.3:p.Pro856Ala
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro857Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

22-50882363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882363
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882363
    reference: chr 22
allele count: 30
allele frequency: 4.535010279356633e-4
allele num: 66152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1455C>T
  hgvsp: ENSP00000391595.2:p.Pro486Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2570C>T
  hgvsp: ENSP00000379090.3:p.Pro857Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2669C>T
  hgvsp: ENSP00000216061.5:p.Pro890Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.848C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2570C>T
  hgvsp: ENSP00000352051.3:p.Pro857Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1824C>T
  hgvsp: ENSP00000384532.3:p.Pro609Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2567C>T
  hgvsp: ENSP00000379093.3:p.Pro856Leu
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 24692
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro857Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

22-50882367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882367
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882367
    reference: chr 22
allele count: 26
allele frequency: 3.716196901263507e-4
allele num: 69964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2574C>T
  hgvsp: ENST00000395741.3:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1828C>T
  hgvsp: ENST00000401672.3:c.1828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2673C>T
  hgvsp: ENST00000216061.5:c.2673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2571C>T
  hgvsp: ENST00000395744.3:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.852C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1459C>T
  hgvsp: ENST00000427222.2:c.1459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2574C>T
  hgvsp: ENST00000359139.3:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16055
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala858Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

22-50882368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882368
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882368
    reference: chr 22
allele count: 1
allele frequency: 1.403075541587159e-5
allele num: 71272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2575G>A
  hgvsp: ENSP00000379090.3:p.Val859Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1460G>A
  hgvsp: ENSP00000391595.2:p.Val488Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2572G>A
  hgvsp: ENSP00000379093.3:p.Val858Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2575G>A
  hgvsp: ENSP00000352051.3:p.Val859Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1829G>A
  hgvsp: ENSP00000384532.3:p.Val611Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.853G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2674G>A
  hgvsp: ENSP00000216061.5:p.Val892Met
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val859Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

22-50882369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882369
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882369
    reference: chr 22
allele count: 1
allele frequency: 1.374154894739735e-5
allele num: 72772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2573T>C
  hgvsp: ENSP00000379093.3:p.Val858Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1461T>C
  hgvsp: ENSP00000391595.2:p.Val488Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2576T>C
  hgvsp: ENSP00000379090.3:p.Val859Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2576T>C
  hgvsp: ENSP00000352051.3:p.Val859Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.854T>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2675T>C
  hgvsp: ENSP00000216061.5:p.Val892Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1830T>C
  hgvsp: ENSP00000384532.3:p.Val611Ala
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val859Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

22-50882373-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882373
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882373
    reference: chr 22
allele count: 1
allele frequency: 1.318913215510419e-5
allele num: 75820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.858T>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1465T>G
  hgvsp: ENST00000427222.2:c.1465T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2577T>G
  hgvsp: ENST00000395744.3:c.2577T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2580T>G
  hgvsp: ENST00000359139.3:c.2580T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1834T>G
  hgvsp: ENST00000401672.3:c.1834T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2679T>G
  hgvsp: ENST00000216061.5:c.2679T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2580T>G
  hgvsp: ENST00000395741.3:c.2580T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala860Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

22-50882376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882376
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882376
    reference: chr 22
allele count: 2
allele frequency: 2.582377853527528e-5
allele num: 77448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1468G>A
  hgvsp: ENST00000427222.2:c.1468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2583G>A
  hgvsp: ENST00000359139.3:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2682G>A
  hgvsp: ENST00000216061.5:c.2682G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2583G>A
  hgvsp: ENST00000395741.3:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1837G>A
  hgvsp: ENST00000401672.3:c.1837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2580G>A
  hgvsp: ENST00000395744.3:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.861G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20826
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val861Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/22-50882377-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882377
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882377
    reference: chr 22
allele count: 1
allele frequency: 1.269293257514216e-5
allele num: 78784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1469C>A
  hgvsp: ENSP00000391595.2:p.Pro491Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2584C>A
  hgvsp: ENSP00000379090.3:p.Pro862Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2584C>A
  hgvsp: ENSP00000352051.3:p.Pro862Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2581C>A
  hgvsp: ENSP00000379093.3:p.Pro861Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.862C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2683C>A
  hgvsp: ENSP00000216061.5:p.Pro895Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1838C>A
  hgvsp: ENSP00000384532.3:p.Pro614Thr
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro862Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

22-50882380-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882380
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882380
    reference: chr 22
allele count: 1
allele frequency: 1.20513871146569e-5
allele num: 82978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2686C>G
  hgvsp: ENSP00000216061.5:p.Pro896Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2584C>G
  hgvsp: ENSP00000379093.3:p.Pro862Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1841C>G
  hgvsp: ENSP00000384532.3:p.Pro615Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2587C>G
  hgvsp: ENSP00000352051.3:p.Pro863Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.865C>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2587C>G
  hgvsp: ENSP00000379090.3:p.Pro863Ala
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1472C>G
  hgvsp: ENSP00000391595.2:p.Pro492Ala
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro863Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

22-50882382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882382
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882382
    reference: chr 22
allele count: 1
allele frequency: 1.184048498626504e-5
allele num: 84456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2586C>T
  hgvsp: ENST00000395744.3:c.2586C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1474C>T
  hgvsp: ENST00000427222.2:c.1474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1843C>T
  hgvsp: ENST00000401672.3:c.1843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.867C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2688C>T
  hgvsp: ENST00000216061.5:c.2688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2589C>T
  hgvsp: ENST00000359139.3:c.2589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2589C>T
  hgvsp: ENST00000395741.3:c.2589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro863Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

22-50882385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882385
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882385
    reference: chr 22
allele count: 51
allele frequency: 5.745443075051258e-4
allele num: 88766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1846G>A
  hgvsp: ENST00000401672.3:c.1846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1477G>A
  hgvsp: ENST00000427222.2:c.1477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2592G>A
  hgvsp: ENST00000359139.3:c.2592G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2691G>A
  hgvsp: ENST00000216061.5:c.2691G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2592G>A
  hgvsp: ENST00000395741.3:c.2592G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.870G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2589G>A
  hgvsp: ENST00000395744.3:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26259
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14775
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 9.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu864Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

22-50882385-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882385
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882385
    reference: chr 22
allele count: 2
allele frequency: 2.25311493139265e-5
allele num: 88766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1846G>T
  hgvsp: ENSP00000384532.3:p.Glu616Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2589G>T
  hgvsp: ENSP00000379093.3:p.Glu863Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1477G>T
  hgvsp: ENSP00000391595.2:p.Glu493Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.870G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2691G>T
  hgvsp: ENSP00000216061.5:p.Glu897Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2592G>T
  hgvsp: ENSP00000352051.3:p.Glu864Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2592G>T
  hgvsp: ENSP00000379090.3:p.Glu864Asp
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26259
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu864Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/22-50882390-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882390
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882390
    reference: chr 22
allele count: 2
allele frequency: 2.140044512925869e-5
allele num: 93456
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2597C>A
  hgvsp: ENSP00000379090.3:p.Thr866Asn
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1851C>A
  hgvsp: ENSP00000384532.3:p.Thr618Asn
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1482C>A
  hgvsp: ENSP00000391595.2:p.Thr495Asn
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2696C>A
  hgvsp: ENSP00000216061.5:p.Thr899Asn
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2597C>A
  hgvsp: ENSP00000352051.3:p.Thr866Asn
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2594C>A
  hgvsp: ENSP00000379093.3:p.Thr865Asn
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.875C>A
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr866Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

22-50882395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882395
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882395
    reference: chr 22
allele count: 3
allele frequency: 3.088326127239036e-5
allele num: 97140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2701G>A
  hgvsp: ENSP00000216061.5:p.Ala901Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2602G>A
  hgvsp: ENSP00000352051.3:p.Ala868Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2599G>A
  hgvsp: ENSP00000379093.3:p.Ala867Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2602G>A
  hgvsp: ENSP00000379090.3:p.Ala868Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1856G>A
  hgvsp: ENSP00000384532.3:p.Ala620Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1487G>A
  hgvsp: ENSP00000391595.2:p.Ala497Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.880G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala868Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-50882396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882396
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882396
    reference: chr 22
allele count: 1
allele frequency: 1.022766788716837e-5
allele num: 97774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1857C>T
  hgvsp: ENSP00000384532.3:p.Ala620Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.881C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2603C>T
  hgvsp: ENSP00000352051.3:p.Ala868Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2603C>T
  hgvsp: ENSP00000379090.3:p.Ala868Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2702C>T
  hgvsp: ENSP00000216061.5:p.Ala901Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2600C>T
  hgvsp: ENSP00000379093.3:p.Ala867Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1488C>T
  hgvsp: ENSP00000391595.2:p.Ala497Val
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala868Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

22-50882398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882398
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882398
    reference: chr 22
allele count: 1
allele frequency: 1.008430478802791e-5
allele num: 99164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2704A>G
  hgvsp: ENSP00000216061.5:p.Ile902Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2602A>G
  hgvsp: ENSP00000379093.3:p.Ile868Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1490A>G
  hgvsp: ENSP00000391595.2:p.Ile498Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2605A>G
  hgvsp: ENSP00000352051.3:p.Ile869Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2605A>G
  hgvsp: ENSP00000379090.3:p.Ile869Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.883A>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1859A>G
  hgvsp: ENSP00000384532.3:p.Ile621Val
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11336
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile869Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

22-50882405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882405
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882405
    reference: chr 22
allele count: 1
allele frequency: 9.742410662094229e-6
allele num: 102644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2612C>T
  hgvsp: ENSP00000352051.3:p.Thr871Ile
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2711C>T
  hgvsp: ENSP00000216061.5:p.Thr904Ile
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1866C>T
  hgvsp: ENSP00000384532.3:p.Thr623Ile
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2612C>T
  hgvsp: ENSP00000379090.3:p.Thr871Ile
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2609C>T
  hgvsp: ENSP00000379093.3:p.Thr870Ile
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1497C>T
  hgvsp: ENSP00000391595.2:p.Thr500Ile
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.890C>T
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr871Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

22-50882413-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882413
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882413
    reference: chr 22
allele count: 1
allele frequency: 9.491988761485307e-6
allele num: 105352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2620A>G
  hgvsp: ENSP00000379090.3:p.Ser874Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1874A>G
  hgvsp: ENSP00000384532.3:p.Ser626Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2620A>G
  hgvsp: ENSP00000352051.3:p.Ser874Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2617A>G
  hgvsp: ENSP00000379093.3:p.Ser873Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2719A>G
  hgvsp: ENSP00000216061.5:p.Ser907Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.898A>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1505A>G
  hgvsp: ENSP00000391595.2:p.Ser503Gly
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser874Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

22-50882419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882419
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882419
    reference: chr 22
allele count: 3
allele frequency: 2.786446723138654e-5
allele num: 107664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1880G>C
  hgvsp: ENSP00000384532.3:p.Ala628Pro
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.904G>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2626G>C
  hgvsp: ENSP00000379090.3:p.Ala876Pro
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2623G>C
  hgvsp: ENSP00000379093.3:p.Ala875Pro
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1511G>C
  hgvsp: ENSP00000391595.2:p.Ala505Pro
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2725G>C
  hgvsp: ENSP00000216061.5:p.Ala909Pro
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2626G>C
  hgvsp: ENSP00000352051.3:p.Ala876Pro
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala876Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-50882427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882427
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882427
    reference: chr 22
allele count: 924
allele frequency: 8.144126357354392e-3
allele num: 113456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1519C>T
  hgvsp: ENST00000427222.2:c.1519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1888C>T
  hgvsp: ENST00000401672.3:c.1888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2634C>T
  hgvsp: ENST00000359139.3:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.912C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2733C>T
  hgvsp: ENST00000216061.5:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2631C>T
  hgvsp: ENST00000395744.3:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2634C>T
  hgvsp: ENST00000395741.3:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 13287
  bin: 2.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 34845
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 902
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39838
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro878Pro
num of homozygotes: 16
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

22-50882428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882428
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882428
    reference: chr 22
allele count: 9
allele frequency: 7.905832747716092e-5
allele num: 113840
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2635G>A
  hgvsp: ENSP00000379090.3:p.Ala879Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2635G>A
  hgvsp: ENSP00000352051.3:p.Ala879Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.913G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1520G>A
  hgvsp: ENSP00000391595.2:p.Ala508Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2734G>A
  hgvsp: ENSP00000216061.5:p.Ala912Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1889G>A
  hgvsp: ENSP00000384532.3:p.Ala631Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2632G>A
  hgvsp: ENSP00000379093.3:p.Ala878Thr
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala879Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

22-50882437-ACCCCAGCAGTCTCTTCTGCACTGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882437
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882413
    reference: chr 22
allele count: 1
allele frequency: 8.651117724409994e-6
allele num: 115592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsp: ENSP00000384532.3:p.Pro635_Ala642del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsp: ENSP00000216061.5:p.Pro916_Ala923del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsp: ENSP00000379093.3:p.Pro882_Ala889del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsp: ENSP00000352051.3:p.Pro883_Ala890del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsp: ENSP00000379090.3:p.Pro883_Ala890del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsp: ENSP00000391595.2:p.Pro512_Ala519del
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro883_Ala890del
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: ACCCCAGCAGTCTCTTCTGCACTGG
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/22-50882440-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882440
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882440
    reference: chr 22
allele count: 3
allele frequency: 2.584157392412914e-5
allele num: 116092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1901C>A
  hgvsp: ENSP00000384532.3:p.Pro635Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2644C>A
  hgvsp: ENSP00000379093.3:p.Pro882Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2647C>A
  hgvsp: ENSP00000352051.3:p.Pro883Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1532C>A
  hgvsp: ENSP00000391595.2:p.Pro512Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2746C>A
  hgvsp: ENSP00000216061.5:p.Pro916Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2647C>A
  hgvsp: ENSP00000379090.3:p.Pro883Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.925C>A
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro883Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

22-50882441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882441
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882441
    reference: chr 22
allele count: 1
allele frequency: 8.60540763815982e-6
allele num: 116206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.926C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1902C>T
  hgvsp: ENSP00000384532.3:p.Pro635Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2648C>T
  hgvsp: ENSP00000379090.3:p.Pro883Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2747C>T
  hgvsp: ENSP00000216061.5:p.Pro916Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2648C>T
  hgvsp: ENSP00000352051.3:p.Pro883Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2645C>T
  hgvsp: ENSP00000379093.3:p.Pro882Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1533C>T
  hgvsp: ENSP00000391595.2:p.Pro512Leu
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro883Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

22-50882443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882443
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882443
    reference: chr 22
allele count: 1
allele frequency: 8.590917681826773e-6
allele num: 116402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2650G>A
  hgvsp: ENSP00000379090.3:p.Ala884Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1904G>A
  hgvsp: ENSP00000384532.3:p.Ala636Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.928G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1535G>A
  hgvsp: ENSP00000391595.2:p.Ala513Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2650G>A
  hgvsp: ENSP00000352051.3:p.Ala884Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2749G>A
  hgvsp: ENSP00000216061.5:p.Ala917Thr
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2647G>A
  hgvsp: ENSP00000379093.3:p.Ala883Thr
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala884Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

22-50882445-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882445
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882445
    reference: chr 22
allele count: 1
allele frequency: 8.575005573753624e-6
allele num: 116618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.930A>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2652A>G
  hgvsp: ENST00000395741.3:c.2652A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1537A>G
  hgvsp: ENST00000427222.2:c.1537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1906A>G
  hgvsp: ENST00000401672.3:c.1906A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2751A>G
  hgvsp: ENST00000216061.5:c.2751A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2652A>G
  hgvsp: ENST00000359139.3:c.2652A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2649A>G
  hgvsp: ENST00000395744.3:c.2649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala884Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-50882462-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882462
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882462
    reference: chr 22
allele count: 1
allele frequency: 8.559005785887911e-6
allele num: 116836
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2669C>A
  hgvsp: ENSP00000379090.3:p.Ala890Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2666C>A
  hgvsp: ENSP00000379093.3:p.Ala889Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1554C>A
  hgvsp: ENSP00000391595.2:p.Ala519Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1923C>A
  hgvsp: ENSP00000384532.3:p.Ala642Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.947C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2669C>A
  hgvsp: ENSP00000352051.3:p.Ala890Asp
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2768C>A
  hgvsp: ENSP00000216061.5:p.Ala923Asp
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala890Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

22-50882463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882463
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882463
    reference: chr 22
allele count: 5
allele frequency: 4.276355176955577e-5
allele num: 116922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2670C>T
  hgvsp: ENST00000359139.3:c.2670C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2769C>T
  hgvsp: ENST00000216061.5:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.948C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1555C>T
  hgvsp: ENST00000427222.2:c.1555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1924C>T
  hgvsp: ENST00000401672.3:c.1924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2670C>T
  hgvsp: ENST00000395741.3:c.2670C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2667C>T
  hgvsp: ENST00000395744.3:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala890Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

22-50882464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882464
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882464
    reference: chr 22
allele count: 2
allele frequency: 1.707591953826714e-5
allele num: 117124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2668G>A
  hgvsp: ENSP00000379093.3:p.Val890Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.949G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1556G>A
  hgvsp: ENSP00000391595.2:p.Val520Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2770G>A
  hgvsp: ENSP00000216061.5:p.Val924Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1925G>A
  hgvsp: ENSP00000384532.3:p.Val643Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2671G>A
  hgvsp: ENSP00000379090.3:p.Val891Met
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2671G>A
  hgvsp: ENSP00000352051.3:p.Val891Met
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val891Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

22-50882464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882464
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882464
    reference: chr 22
allele count: 1
allele frequency: 8.537959769133568e-6
allele num: 117124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.949G>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2668G>T
  hgvsp: ENSP00000379093.3:p.Val890Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1556G>T
  hgvsp: ENSP00000391595.2:p.Val520Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2671G>T
  hgvsp: ENSP00000379090.3:p.Val891Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1925G>T
  hgvsp: ENSP00000384532.3:p.Val643Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2671G>T
  hgvsp: ENSP00000352051.3:p.Val891Leu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2770G>T
  hgvsp: ENSP00000216061.5:p.Val924Leu
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val891Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-50882468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882468
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882468
    reference: chr 22
allele count: 4
allele frequency: 3.465603881476347e-5
allele num: 115420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2672C>T
  hgvsp: ENSP00000379093.3:p.Ala891Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2675C>T
  hgvsp: ENSP00000352051.3:p.Ala892Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1929C>T
  hgvsp: ENSP00000384532.3:p.Ala644Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2774C>T
  hgvsp: ENSP00000216061.5:p.Ala925Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2675C>T
  hgvsp: ENSP00000379090.3:p.Ala892Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.953C>T
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1560C>T
  hgvsp: ENSP00000391595.2:p.Ala521Val
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala892Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

22-50882469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882469
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882469
    reference: chr 22
allele count: 9
allele frequency: 7.710628673257826e-5
allele num: 116722
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2676G>A
  hgvsp: ENST00000395741.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1930G>A
  hgvsp: ENST00000401672.3:c.1930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1561G>A
  hgvsp: ENST00000427222.2:c.1561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2775G>A
  hgvsp: ENST00000216061.5:c.2775G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2676G>A
  hgvsp: ENST00000359139.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.954G>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2673G>A
  hgvsp: ENST00000395744.3:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34762
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala892Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

22-50882471-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882471
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882471
    reference: chr 22
allele count: 65
allele frequency: 5.728487326823421e-4
allele num: 113468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2777T>G
  hgvsp: ENSP00000216061.5:p.Val926Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1932T>G
  hgvsp: ENSP00000384532.3:p.Val645Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2675T>G
  hgvsp: ENSP00000379093.3:p.Val892Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2678T>G
  hgvsp: ENSP00000379090.3:p.Val893Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1563T>G
  hgvsp: ENSP00000391595.2:p.Val522Gly
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.956T>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2678T>G
  hgvsp: ENSP00000352051.3:p.Val893Gly
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14234
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 34632
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 3
hgvs: p.Val893Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

22-50882476-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882476
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882476
    reference: chr 22
allele count: 1
allele frequency: 8.514841368505305e-6
allele num: 117442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1568C>G
  hgvsp: ENSP00000391595.2:p.Leu524Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1937C>G
  hgvsp: ENSP00000384532.3:p.Leu647Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2680C>G
  hgvsp: ENSP00000379093.3:p.Leu894Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2683C>G
  hgvsp: ENSP00000379090.3:p.Leu895Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.961C>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2782C>G
  hgvsp: ENSP00000216061.5:p.Leu928Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2683C>G
  hgvsp: ENSP00000352051.3:p.Leu895Val
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu895Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

22-50882480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882480
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882480
    reference: chr 22
allele count: 3
allele frequency: 2.551758161373186e-5
allele num: 117566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2786G>A
  hgvsp: ENSP00000216061.5:p.Gly929Glu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2684G>A
  hgvsp: ENSP00000379093.3:p.Gly895Glu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2687G>A
  hgvsp: ENSP00000352051.3:p.Gly896Glu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2687G>A
  hgvsp: ENSP00000379090.3:p.Gly896Glu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1572G>A
  hgvsp: ENSP00000391595.2:p.Gly525Glu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1941G>A
  hgvsp: ENSP00000384532.3:p.Gly648Glu
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.965G>A
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly896Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

22-50882481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882481
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882481
    reference: chr 22
allele count: 1
allele frequency: 8.505281779985371e-6
allele num: 117574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.966G>C
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2685G>C
  hgvsp: ENST00000395744.3:c.2685G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1573G>C
  hgvsp: ENST00000427222.2:c.1573G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2787G>C
  hgvsp: ENST00000216061.5:c.2787G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2688G>C
  hgvsp: ENST00000359139.3:c.2688G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1942G>C
  hgvsp: ENST00000401672.3:c.1942G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2688G>C
  hgvsp: ENST00000395741.3:c.2688G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly896Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-50882483-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882483
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882483
    reference: chr 22
allele count: 2
allele frequency: 1.698715770877217e-5
allele num: 117736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2687C>A
  hgvsp: ENSP00000379093.3:p.Pro896His
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1944C>A
  hgvsp: ENSP00000384532.3:p.Pro649His
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1575C>A
  hgvsp: ENSP00000391595.2:p.Pro526His
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2690C>A
  hgvsp: ENSP00000379090.3:p.Pro897His
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2690C>A
  hgvsp: ENSP00000352051.3:p.Pro897His
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.968C>A
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2789C>A
  hgvsp: ENSP00000216061.5:p.Pro930His
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro897His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

22-50882486-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882486
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882486
    reference: chr 22
allele count: 1
allele frequency: 8.491703605577351e-6
allele num: 117762
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2693T>G
  hgvsp: ENSP00000379090.3:p.Ile898Ser
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2693T>G
  hgvsp: ENSP00000352051.3:p.Ile898Ser
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.971T>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1947T>G
  hgvsp: ENSP00000384532.3:p.Ile650Ser
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2690T>G
  hgvsp: ENSP00000379093.3:p.Ile897Ser
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1578T>G
  hgvsp: ENSP00000391595.2:p.Ile527Ser
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2792T>G
  hgvsp: ENSP00000216061.5:p.Ile931Ser
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41127
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile898Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

22-50882488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50882488
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 50882488
    reference: chr 22
allele count: 1
allele frequency: 8.486370888353305e-6
allele num: 117836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000216061
  ensembl transcript: ENST00000216061
  gene symbol: PPP6R2
  hgvsc: ENST00000216061.5:c.2794A>G
  hgvsp: ENSP00000216061.5:p.Met932Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000384532
  ensembl transcript: ENST00000401672
  gene symbol: PPP6R2
  hgvsc: ENST00000401672.3:c.1949A>G
  hgvsp: ENSP00000384532.3:p.Met651Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100239
  ensembl transcript: ENST00000470046
  gene symbol: PPP6R2
  hgvsc: ENST00000470046.1:n.973A>G
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379093
  ensembl transcript: ENST00000395744
  gene symbol: PPP6R2
  hgvsc: ENST00000395744.3:c.2692A>G
  hgvsp: ENSP00000379093.3:p.Met898Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000379090
  ensembl transcript: ENST00000395741
  gene symbol: PPP6R2
  hgvsc: ENST00000395741.3:c.2695A>G
  hgvsp: ENSP00000379090.3:p.Met899Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000391595
  ensembl transcript: ENST00000427222
  gene symbol: PPP6R2
  hgvsc: ENST00000427222.2:c.1580A>G
  hgvsp: ENSP00000391595.2:p.Met528Val
  variant of: http://identifiers.org/hgnc/19253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100239
  ensembl protein: ENSP00000352051
  ensembl transcript: ENST00000359139
  gene symbol: PPP6R2
  hgvsc: ENST00000359139.3:c.2695A>G
  hgvsp: ENSP00000352051.3:p.Met899Val
  variant of: http://identifiers.org/hgnc/19253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met899Val
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 4311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4806
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.996007984031936e-4
allele num: 5010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 2.79745e5

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5714
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 1
allele frequency: 3.61271676300578e-4
allele num: 2768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

DP
type: SiteQuality
SIO_000300: 4.70874e5

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.673e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

GenotypeQuality
all individuals: 1450
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5201
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.531e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

FS
type: SiteQuality
SIO_000300: 3.274e0

DP
type: SiteQuality
SIO_000300: 4.77023e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 1374
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.355104442483083e-5
allele num: 13596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.448e0

QD
type: SiteQuality
SIO_000300: 9.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

DP
type: SiteQuality
SIO_000300: 4.87095e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.77683013503909e-4
allele num: 5628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 4.89911e5

QD
type: SiteQuality
SIO_000300: 7.72e0

VQSLOD
type: SiteQuality
SIO_000300: -9.360000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 3400
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12721
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26639
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.933910306845004e-4
allele num: 2542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.028394714647174e-5
allele num: 14228
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.730368968779565e-4
allele num: 2114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.965e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 5.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.912e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

DP
type: SiteQuality
SIO_000300: 5.13446e5

GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2616
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 3.992015968063872e-3
allele num: 3006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.835269993164729e-5
allele num: 14630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 2.037e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 5.33103e5

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2714
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29187
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 7.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2164
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.813882532418002e-4
allele num: 2622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 6.777822963264199e-4
allele num: 14754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.306878306878307e-4
allele num: 3024
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.39363e5

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
all individuals: 816
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.75e1
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GenotypeQuality
all individuals: 2066
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.369487811558477e-4
allele num: 7302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.375924509053813e-5
allele num: 15684
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 5.66769e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.547e-1

QD
type: SiteQuality
SIO_000300: 5.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 6.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.74423e5

QD
type: SiteQuality
SIO_000300: 9.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.284e-1

GenotypeQuality
all individuals: 2853
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.566333808844508e-4
allele num: 2804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

FS
type: SiteQuality
SIO_000300: 3.944e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 5.78966e5

GenotypeQuality
all individuals: 2228
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10285
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.132667617689016e-4
allele num: 2804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

FS
type: SiteQuality
SIO_000300: 3.944e0

DP
type: SiteQuality
SIO_000300: 5.78966e5

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.95159386068477e-4
allele num: 3388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.146131805157593e-4
allele num: 17450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 2.040816326530612e-3
allele num: 2450
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.04011e5

VQSLOD
type: SiteQuality
SIO_000300: -4.606e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 1.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 6.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

GenotypeQuality
all individuals: 3075
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 319
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variant carriers: 1

GenotypeQuality
all individuals: 2472
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
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variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5780
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 5.656108597285068e-4
allele num: 17680
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.555808656036447e-4
allele num: 8780
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.224489795918367e-3
allele num: 2450
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 2.32249502322495e-3
allele num: 3014
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 8.828722778104767e-4
allele num: 3398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

QD
type: SiteQuality
SIO_000300: 1.275e1

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 6.10053e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.529e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
all individuals: 2320
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30862
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
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GenotypeQuality
all individuals: 540
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5952
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 6.13207e5

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

GenotypeQuality
all individuals: 8285
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 348
bin: 4.75e1
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GenotypeQuality
all individuals: 29304
bin: 2.25e1
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 5717
bin: 6.25e1
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GenotypeQuality
all individuals: 1053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.25e1
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GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 1043
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.813882532418002e-4
allele num: 2622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3246
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.122691572914456e-4
allele num: 9422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

DP
type: SiteQuality
SIO_000300: 6.34462e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

QD
type: SiteQuality
SIO_000300: 1.121e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8182
bin: 7.5e0
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GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.055520371543171e-4
allele num: 9474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.035822707953856e-4
allele num: 3294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.055100596501871e-5
allele num: 19782
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.361e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 5.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

DP
type: SiteQuality
SIO_000300: 6.37097e5

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7998
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 28261
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.370614035087719e-3
allele num: 3648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 6.38558e5

FS
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.986857825567503e-4
allele num: 3348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.68e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 6.43518e5

QD
type: SiteQuality
SIO_000300: 8.58e0

GenotypeQuality
all individuals: 221
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7512
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
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variant carriers: 0

GenotypeQuality
all individuals: 30011
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 1

GenotypeQuality
all individuals: 598
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 3335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 335
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variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 20
allele frequency: 5.321979776476849e-3
allele num: 3758
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.944640753828033e-4
allele num: 3396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.648784253184099e-5
allele num: 20728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.258e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.49796e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

GenotypeQuality
all individuals: 1232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7091
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GenotypeQuality
all individuals: 2159
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variant carriers: 0

GenotypeQuality
all individuals: 374
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GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 233
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variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
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GenotypeQuality
all individuals: 6246
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variant carriers: 0

GenotypeQuality
all individuals: 388
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variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.651162790697674e-5
allele num: 21500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.516e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

QD
type: SiteQuality
SIO_000300: 1.956e1

FS
type: SiteQuality
SIO_000300: 2.735e0

DP
type: SiteQuality
SIO_000300: 6.60272e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6703
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GenotypeQuality
all individuals: 6303
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variant carriers: 0

GenotypeQuality
all individuals: 282
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GenotypeQuality
all individuals: 1184
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variant carriers: 0

GenotypeQuality
all individuals: 423
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GenotypeQuality
all individuals: 1348
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variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 7.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.69608e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 750
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6301
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GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 430
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GenotypeQuality
all individuals: 585
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variant carriers: 2

GenotypeQuality
all individuals: 3492
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1203
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GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.94521892794031e-4
allele num: 10186
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.509e1

DP
type: SiteQuality
SIO_000300: 6.80467e5

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.904e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3521
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 403
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variant carriers: 2

GenotypeQuality
all individuals: 142
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
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GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 3.47661188369153e-3
allele num: 3164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

FS
type: SiteQuality
SIO_000300: 3.611e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 6.83891e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1442
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GenotypeQuality
all individuals: 321
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GenotypeQuality
all individuals: 1209
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GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3518
bin: 2.75e1
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GenotypeQuality
all individuals: 399
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GenotypeQuality
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GenotypeQuality
all individuals: 157
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GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.708379601947553e-4
allele num: 23414
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 7.780082987551867e-4
allele num: 3856
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 6.87628e5

FS
type: SiteQuality
SIO_000300: 8.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

GenotypeQuality
all individuals: 484
bin: 4.75e1
variant carriers: 26

GenotypeQuality
all individuals: 2430
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 48

GenotypeQuality
all individuals: 1207
bin: 6.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1384
bin: 3.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1091
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 354
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 290
bin: 8.25e1
variant carriers: 62

GenotypeQuality
all individuals: 6612
bin: 6.25e1
variant carriers: 33

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 30

GenotypeQuality
all individuals: 1958
bin: 9.75e1
variant carriers: 1396

Other
type: Population
allele count: 12
allele frequency: 3.243243243243243e-2
allele num: 370
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 7.540056550424128e-3
allele num: 4244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1148
allele frequency: 4.637634321725782e-2
allele num: 24754
num of homozygotes: 11

European (Finnish)
type: Population
allele count: 53
allele frequency: 4.160125588697017e-2
allele num: 1274
num of homozygotes: 1

East Asian
type: Population
allele count: 4
allele frequency: 1.237623762376238e-3
allele num: 3232
num of homozygotes: 0

South Asian
type: Population
allele count: 138
allele frequency: 1.33050520632472e-2
allele num: 10372
num of homozygotes: 1

Latino
type: Population
allele count: 117
allele frequency: 2.94858870967742e-2
allele num: 3968
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

DP
type: SiteQuality
SIO_000300: 7.03207e5

GenotypeQuality
all individuals: 2511
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 411
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 8.955223880597015e-4
allele num: 3350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.922183871979918e-5
allele num: 25496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.0277e5

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

GenotypeQuality
all individuals: 1620
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 1028
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1668
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 438
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 430
bin: 5.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.181660627067906e-4
allele num: 25388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4316
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.4330900243309e-4
allele num: 4110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 3.631498470948012e-3
allele num: 10464
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.10794e5

QD
type: SiteQuality
SIO_000300: 1.332e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

GenotypeQuality
all individuals: 4874
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1785
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.710299792223212e-5
allele num: 26952
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.284e0

DP
type: SiteQuality
SIO_000300: 7.23668e5

MQRankSum
type: SiteQuality
SIO_000300: -1.791e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.324e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1465
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.169197396963124e-4
allele num: 4610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -2.435e0

DP
type: SiteQuality
SIO_000300: 7.3364e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 3.565e0

MQ
type: SiteQuality
SIO_000300: 5.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

QD
type: SiteQuality
SIO_000300: 1.121e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
all individuals: 4450
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27662
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.288500835965076e-5
allele num: 10766
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

FS
type: SiteQuality
SIO_000300: 3.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

DP
type: SiteQuality
SIO_000300: 7.38053e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.929e-1

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
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variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 1

GenotypeQuality
all individuals: 1840
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.4331227684702e-5
allele num: 29128
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.177e-1

DP
type: SiteQuality
SIO_000300: 7.53125e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
all individuals: 523
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4804
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.094216078574027e-5
allele num: 10996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.902e0

FS
type: SiteQuality
SIO_000300: 1.2781e1

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.273e0

DP
type: SiteQuality
SIO_000300: 7.66763e5

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

GenotypeQuality
all individuals: 934
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

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

GenotypeQuality
all individuals: 543
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variant carriers: 0

GenotypeQuality
all individuals: 27667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.856653145175113e-5
allele num: 35006
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.45573e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 3303
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 710
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2465
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14479
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 28

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

Latino
type: Population
allele count: 30
allele frequency: 5.183137525915688e-3
allele num: 5788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2310
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35524
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

DP
type: SiteQuality
SIO_000300: 8.55469e5

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12056
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 3.757911392405063e-3
allele num: 5056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.843657817109145e-4
allele num: 37968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.229e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

DP
type: SiteQuality
SIO_000300: 8.91469e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.580378799607782e-5
allele num: 38754
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

QD
type: SiteQuality
SIO_000300: 1.374e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 9.0895e5

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

FS
type: SiteQuality
SIO_000300: 2.245e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.522831626217266e-5
allele num: 39638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 1.296e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 9.18091e5

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.36e-2

QD
type: SiteQuality
SIO_000300: 9.07e0

GenotypeQuality
all individuals: 331
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6698
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.621271076523995e-4
allele num: 6168
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12554
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 9.50754e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

GenotypeQuality
all individuals: 21290
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 700
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GenotypeQuality
all individuals: 131
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42434
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.452221899506245e-4
allele num: 6886
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.58378207158695e-4
allele num: 6314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

DP
type: SiteQuality
SIO_000300: 9.72736e5

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.461e0

VQSLOD
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 2.649e0

QD
type: SiteQuality
SIO_000300: 7.33e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.716443529007896e-4
allele num: 5826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

DP
type: SiteQuality
SIO_000300: 9.89612e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

FS
type: SiteQuality
SIO_000300: 2.216e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
SIO_000300: 4.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.098e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.195389681668496e-5
allele num: 45550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13138
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.191e0

DP
type: SiteQuality
SIO_000300: 1.017764e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3296
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South Asian
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allele count: 1
allele frequency: 7.536930961712391e-5
allele num: 13268
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 610
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46482
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

DP
type: SiteQuality
SIO_000300: 1.036308e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2210
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.230012300123001e-4
allele num: 8130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.041899783558623e-5
allele num: 48974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 49
allele frequency: 6.820712694877506e-3
allele num: 7184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.264e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.202e0

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

GenotypeQuality
all individuals: 1543
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.783964365256125e-4
allele num: 7184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.202e0

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 1.329e0

DP
type: SiteQuality
SIO_000300: 1.07521e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 14171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 395
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.874617381533573e-5
allele num: 51618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14162
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3804
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.879e0

VQSLOD
type: SiteQuality
SIO_000300: -2.616e-1

DP
type: SiteQuality
SIO_000300: 1.127317e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.695e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1054
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12314
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9154
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.849114703618168e-4
allele num: 7794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.169e0

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.731e1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

DP
type: SiteQuality
SIO_000300: 1.16696e6

FS
type: SiteQuality
SIO_000300: 1.399e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

GenotypeQuality
all individuals: 1166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 537
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variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.273236567354214e-4
allele num: 7854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.186e0

QD
type: SiteQuality
SIO_000300: 9.5e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 1.174892e6

GenotypeQuality
all individuals: 590
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.35626767200754e-4
allele num: 4244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 1.187929e6

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.455e0

VQSLOD
type: SiteQuality
SIO_000300: -5.003e-1

GenotypeQuality
all individuals: 736
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 573
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GenotypeQuality
all individuals: 641
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variant carriers: 1

GenotypeQuality
all individuals: 1463
bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 1297
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GenotypeQuality
all individuals: 1201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.767971429581698e-5
allele num: 56562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.333e0

DP
type: SiteQuality
SIO_000300: 1.227208e6

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 6.576e0

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

GenotypeQuality
all individuals: 295
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 1.264038e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 957
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.698224852071006e-4
allele num: 8112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.295883e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.147e1

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2019
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 180
bin: 4.25e1
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GenotypeQuality
all individuals: 176
bin: 5.25e1
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GenotypeQuality
all individuals: 1935
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 333
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variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6173
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 1

South Asian
type: Population
allele count: 452
allele frequency: 2.825e-2
allele num: 16000
num of homozygotes: 14

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

European (Non-Finnish)
type: Population
allele count: 211
allele frequency: 3.388143104887918e-3
allele num: 62276
num of homozygotes: 2

African
type: Population
allele count: 7
allele frequency: 7.51556796220743e-4
allele num: 9314
num of homozygotes: 0

Latino
type: Population
allele count: 164
allele frequency: 1.486854034451496e-2
allele num: 11030
num of homozygotes: 0

East Asian
type: Population
allele count: 87
allele frequency: 1.030073407530192e-2
allele num: 8446
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.722084367245658e-3
allele num: 806
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 2.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

DP
type: SiteQuality
SIO_000300: 1.411772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 4039
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
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GenotypeQuality
all individuals: 222
bin: 4.25e1
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GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
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GenotypeQuality
all individuals: 253
bin: 4.75e1
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GenotypeQuality
all individuals: 540
bin: 3.25e1
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GenotypeQuality
all individuals: 1188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 385
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.901794145420207e-4
allele num: 8472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601127193544255e-5
allele num: 62456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.213367609254498e-4
allele num: 9336
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.255e1

FS
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.402743e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3112
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.576342255430499e-5
allele num: 63438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.728e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.424599e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.57e0

FS
type: SiteQuality
SIO_000300: 4.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.892e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.992e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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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: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63696
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.121748178980229e-4
allele num: 9610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.327e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

DP
type: SiteQuality
SIO_000300: 1.430632e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

GenotypeQuality
all individuals: 2942
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171234481143125e-4
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.952e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 7.429e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 1.432013e6

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565974505935043e-5
allele num: 63858
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.607e1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.78e0

DP
type: SiteQuality
SIO_000300: 1.434369e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
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GenotypeQuality
all individuals: 2767
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1032
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563526063979486e-5
allele num: 63958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.808e-1

DP
type: SiteQuality
SIO_000300: 1.437153e6

FS
type: SiteQuality
SIO_000300: 3.726e0

QD
type: SiteQuality
SIO_000300: 1.476e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 111
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63984
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
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
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MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.449074e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.790436005625879e-5
allele num: 11376
num of homozygotes: 0

African
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allele count: 0
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East Asian
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allele frequency: 1.169043722235212e-4
allele num: 8554
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.643115346697338e-4
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.561670362619858e-5
allele num: 64034
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.165501165501166e-3
allele num: 858
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.449498e6

FS
type: SiteQuality
SIO_000300: 9.811e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

African
type: Population
allele count: 0
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Latino
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.559332605644784e-5
allele num: 64130
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South Asian
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allele frequency: 6.088650754992694e-5
allele num: 16424
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Other
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.18e-1

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

South Asian
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allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6130
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Latino
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African
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Other
type: Population
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allele num: 860
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VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 1.058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584836286411614e-5
allele num: 63098
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180358829084042e-4
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.829242450997704e-5
allele num: 11326
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.190476190476191e-3
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.448e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.008e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

DP
type: SiteQuality
SIO_000300: 1.46557e6

FS
type: SiteQuality
SIO_000300: 9.856999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40247
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.133813851457223e-5
allele num: 63820
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.793527963418924e-5
allele num: 11372
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.133486526007938e-4
allele num: 9574
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21654501216545e-4
allele num: 16440
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.460202e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 5.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 706
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 429
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2206
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6293
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1094
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2183
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 39707
bin: 6.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 6.298246180678919e-4
allele num: 61922
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.421843908910016e-4
allele num: 9046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.843296781039972e-5
allele num: 11308
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.366863905325444e-4
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.72133526850508e-3
allele num: 5512
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 5.012531328320802e-3
allele num: 798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.15085e2

DP
type: SiteQuality
SIO_000300: 1.445633e6

QD
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -6.17e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.182e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.791e1

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6594
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.532e0

DP
type: SiteQuality
SIO_000300: 1.452712e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.129e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.687e0

QD
type: SiteQuality
SIO_000300: 8.17e0

GenotypeQuality
all individuals: 1456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.110903717529942e-5
allele num: 64290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03476821192053e-4
allele num: 9664
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.078e0

DP
type: SiteQuality
SIO_000300: 1.455197e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554968123153475e-5
allele num: 64310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.384e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

DP
type: SiteQuality
SIO_000300: 1.45619e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

GenotypeQuality
all individuals: 1457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
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GenotypeQuality
all individuals: 1232
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

DP
type: SiteQuality
SIO_000300: 1.458501e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.460081e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.574e1

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1