1-202394812-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394812
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394812
    reference: chr 1
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*112C>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.660C>G
  hgvsp: ENST00000608999.1:c.660C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.660C>G
  hgvsp: ENST00000336894.4:c.660C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.660C>G
  hgvsp: ENST00000480184.1:c.660C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.660C>G
  hgvsp: ENST00000356764.2:c.660C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1356C>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27127
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51959
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala220Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-202394820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394820
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*120T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1348T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.668T>C
  hgvsp: ENSP00000417159.1:p.Val223Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.668T>C
  hgvsp: ENSP00000349206.2:p.Val223Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.668T>C
  hgvsp: ENSP00000476755.1:p.Val223Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.668T>C
  hgvsp: ENSP00000337897.4:p.Val223Ala
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val223Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-202394839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394839
    reference: chr 1
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.687C>T
  hgvsp: ENST00000608999.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1329C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.687C>T
  hgvsp: ENST00000356764.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.687C>T
  hgvsp: ENST00000480184.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.687C>T
  hgvsp: ENST00000336894.4:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*139C>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr229Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-202394856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394856
    reference: chr 1
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+3A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1312A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+3A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+3A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+3A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+3A>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
hgvs: c.701+3A>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-202394868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394868
    reference: chr 1
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+15C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+15C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+15C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+15C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1300C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+15C>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-202394876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394876
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394876
    reference: chr 1
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1292A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+23A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+23A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+23A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+23A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+23A>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-202394883-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394883
    reference: chr 1
allele count: 316
allele frequency: 2.616630508586854e-3
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1285G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+30G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+30G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+30G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+30G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+30G>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 27118
  bin: 9.75e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 6
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

1-202394884-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394884
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394884
    reference: chr 1
allele count: 2
allele frequency: 1.655629139072848e-5
allele num: 120800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+31T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+31T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1284T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+31T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+31T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+31T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27021
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-202394888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394888
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394888
    reference: chr 1
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1280C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+35C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+35C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+35C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+35C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+35C>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27020
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-202394892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394892
    reference: chr 1
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+39G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1276G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+39G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+39G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+39G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+39G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27020
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

1-202394894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394894
    reference: chr 1
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+41G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+41G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1274G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+41G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+41G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+41G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
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genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
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genotype quality: GenotypeQuality
  all individuals: 51944
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 139
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 372
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-202394899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394899
    reference: chr 1
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+46T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+46T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+46T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1269T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+46T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+46T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51944
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-202394900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394900
    reference: chr 1
allele count: 3
allele frequency: 2.487603442843165e-5
allele num: 120598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+47G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+47G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+47G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+47G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1268G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+47G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-202394903-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202394903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202394903
    reference: chr 1
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*153+50A>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.701+50A>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.701+50A>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.701+50A>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-1265A>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.701+50A>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
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genotype quality: GenotypeQuality
  all individuals: 51944
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-202396126-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396126
    reference: chr 1
allele count: 7
allele frequency: 5.84365712759208e-5
allele num: 119788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-42A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-42A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-42A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-42A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-42A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-42A>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 728
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genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 706
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

1-202396130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396130
    reference: chr 1
allele count: 16
allele frequency: 1.335224901944421e-4
allele num: 119830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-38A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-38A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-38A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-38A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-38A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-38A>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14101
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-202396131-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396131
    reference: chr 1
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-37C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-37C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-37C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-37C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-37C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-37C>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 132
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genotype depth: GenotypeDepth
  all individuals: 881
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
  all individuals: 630
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genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 216
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genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-202396131-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396131
    reference: chr 1
allele count: 2
allele frequency: 1.669644198821231e-5
allele num: 119786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-37C>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-37C>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-37C>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-37C>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-37C>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-37C>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
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genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-202396138-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396138
    reference: chr 1
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-30T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-30T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-30T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-30T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-30T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-30T>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 380
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genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 349
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7071
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 14088
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1984
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

1-202396139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396139
    reference: chr 1
allele count: 2
allele frequency: 1.666333399986669e-5
allele num: 120024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-29A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-29A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-29A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-29A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-29A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-29A>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-202396140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396140
    reference: chr 1
allele count: 1
allele frequency: 8.330972891014212e-6
allele num: 120034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-28T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-28T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-28T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-28T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-28T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-28T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14087
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-202396145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396145
    reference: chr 1
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-23C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-23C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-23C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-23C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-23C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-23C>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14087
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-202396155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396155
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396155
    reference: chr 1
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-13G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-13G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-13G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-13G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-13G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-13G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20338
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-202396156-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396156
    reference: chr 1
allele count: 3
allele frequency: 2.490494612229989e-5
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-12T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-12T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-12T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-12T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-12T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-12T>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14082
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-202396159-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396159
    reference: chr 1
allele count: 3
allele frequency: 2.488346245085516e-5
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-9T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-9T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-9T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-9T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-9T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-9T>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5226
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-202396160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396160
    reference: chr 1
allele count: 4
allele frequency: 3.31796011811938e-5
allele num: 120556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.702-8C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*154-8C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.702-8C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.88-8C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.702-8C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.702-8C>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: c.702-8C>T
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-202396172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396172
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396172
    reference: chr 1
allele count: 2
allele frequency: 1.654478673769895e-5
allele num: 120884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.706T>C
  hgvsp: ENST00000356764.2:c.706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.706T>C
  hgvsp: ENST00000336894.4:c.706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.706T>C
  hgvsp: ENST00000480184.1:c.706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.92T>C
  hgvsp: ENST00000466968.1:c.92T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*158T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.706T>C
  hgvsp: ENST00000608999.1:c.706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu236Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-202396184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396184
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.718G>A
  hgvsp: ENSP00000337897.4:p.Gly240Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.718G>A
  hgvsp: ENSP00000349206.2:p.Gly240Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.718G>A
  hgvsp: ENSP00000476755.1:p.Gly240Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.718G>A
  hgvsp: ENSP00000417159.1:p.Gly240Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.104G>A
  hgvsp: ENSP00000417975.1:p.Gly36Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly240Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-202396188-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396188
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396188
    reference: chr 1
allele count: 87
allele frequency: 7.174784344125748e-4
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*174A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.722A>G
  hgvsp: ENSP00000417159.1:p.Tyr241Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.722A>G
  hgvsp: ENSP00000337897.4:p.Tyr241Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.722A>G
  hgvsp: ENSP00000476755.1:p.Tyr241Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.108A>G
  hgvsp: ENSP00000417975.1:p.Tyr37Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.722A>G
  hgvsp: ENSP00000349206.2:p.Tyr241Cys
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr241Cys
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: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-202396194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396194
    reference: chr 1
allele count: 4
allele frequency: 3.296902560044838e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*180T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.728T>C
  hgvsp: ENSP00000476755.1:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.114T>C
  hgvsp: ENSP00000417975.1:p.Leu39Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.728T>C
  hgvsp: ENSP00000349206.2:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.728T>C
  hgvsp: ENSP00000337897.4:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.728T>C
  hgvsp: ENSP00000417159.1:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu243Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-202396197-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396197
    reference: chr 1
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.117A>G
  hgvsp: ENSP00000417975.1:p.Asn40Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.731A>G
  hgvsp: ENSP00000476755.1:p.Asn244Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.731A>G
  hgvsp: ENSP00000337897.4:p.Asn244Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.731A>G
  hgvsp: ENSP00000417159.1:p.Asn244Ser
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*183A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.731A>G
  hgvsp: ENSP00000349206.2:p.Asn244Ser
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14064
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn244Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-202396198-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396198
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396198
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.118T>C
  hgvsp: ENST00000466968.1:c.118T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.732T>C
  hgvsp: ENST00000608999.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*184T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.732T>C
  hgvsp: ENST00000480184.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.732T>C
  hgvsp: ENST00000356764.2:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.732T>C
  hgvsp: ENST00000336894.4:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn244Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-202396203-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396203
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.737A>C
  hgvsp: ENSP00000349206.2:p.Gln246Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.737A>C
  hgvsp: ENSP00000417159.1:p.Gln246Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.737A>C
  hgvsp: ENSP00000337897.4:p.Gln246Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*189A>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.123A>C
  hgvsp: ENSP00000417975.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.737A>C
  hgvsp: ENSP00000476755.1:p.Gln246Pro
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln246Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-202396209-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396209
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.743A>T
  hgvsp: ENSP00000337897.4:p.Tyr248Phe
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*195A>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.743A>T
  hgvsp: ENSP00000349206.2:p.Tyr248Phe
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.743A>T
  hgvsp: ENSP00000476755.1:p.Tyr248Phe
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.129A>T
  hgvsp: ENSP00000417975.1:p.Tyr44Phe
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.743A>T
  hgvsp: ENSP00000417159.1:p.Tyr248Phe
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr248Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-202396210-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396210
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396210
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.744T>C
  hgvsp: ENST00000336894.4:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*196T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.744T>C
  hgvsp: ENST00000608999.1:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.744T>C
  hgvsp: ENST00000356764.2:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.130T>C
  hgvsp: ENST00000466968.1:c.130T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.744T>C
  hgvsp: ENST00000480184.1:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr248Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

1-202396225-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396225
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.145C>G
  hgvsp: ENST00000466968.1:c.145C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.759C>G
  hgvsp: ENST00000480184.1:c.759C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.759C>G
  hgvsp: ENST00000608999.1:c.759C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.759C>G
  hgvsp: ENST00000336894.4:c.759C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.759C>G
  hgvsp: ENST00000356764.2:c.759C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*211C>G
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro253Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-202396234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396234
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.768T>C
  hgvsp: ENST00000336894.4:c.768T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.768T>C
  hgvsp: ENST00000356764.2:c.768T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.768T>C
  hgvsp: ENST00000608999.1:c.768T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.768T>C
  hgvsp: ENST00000480184.1:c.768T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*220T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.154T>C
  hgvsp: ENST00000466968.1:c.154T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala256Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

1-202396246-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396246
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.166G>T
  hgvsp: ENSP00000417975.1:p.Trp56Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*232G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.780G>T
  hgvsp: ENSP00000349206.2:p.Trp260Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.780G>T
  hgvsp: ENSP00000476755.1:p.Trp260Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.780G>T
  hgvsp: ENSP00000417159.1:p.Trp260Cys
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.780G>T
  hgvsp: ENSP00000337897.4:p.Trp260Cys
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp260Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-202396248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396248
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*234G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.782G>A
  hgvsp: ENSP00000337897.4:p.Gly261Glu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.782G>A
  hgvsp: ENSP00000349206.2:p.Gly261Glu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.168G>A
  hgvsp: ENSP00000417975.1:p.Gly57Glu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.782G>A
  hgvsp: ENSP00000476755.1:p.Gly261Glu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.782G>A
  hgvsp: ENSP00000417159.1:p.Gly261Glu
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21086
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly261Glu
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: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

1-202396252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396252
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.786G>A
  hgvsp: ENST00000480184.1:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.786G>A
  hgvsp: ENST00000336894.4:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.786G>A
  hgvsp: ENST00000608999.1:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.786G>A
  hgvsp: ENST00000356764.2:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.172G>A
  hgvsp: ENST00000466968.1:c.172G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val262Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

1-202396259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396259
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.793G>A
  hgvsp: ENSP00000349206.2:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.179G>A
  hgvsp: ENSP00000417975.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.793G>A
  hgvsp: ENSP00000476755.1:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.793G>A
  hgvsp: ENSP00000417159.1:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.793G>A
  hgvsp: ENSP00000337897.4:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala265Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-202396263-GCTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396260
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*251_*253delTCC
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.799_801delTCC
  hgvsp: ENSP00000337897.4:p.Ser267del
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.799_801delTCC
  hgvsp: ENSP00000476755.1:p.Ser267del
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.799_801delTCC
  hgvsp: ENSP00000349206.2:p.Ser267del
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.185_187delTCC
  hgvsp: ENSP00000417975.1:p.Ser63del
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.799_801delTCC
  hgvsp: ENSP00000417159.1:p.Ser267del
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser267del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: GCTC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

1-202396269-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396269
    reference: chr 1
allele count: 8
allele frequency: 6.589785831960461e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.803T>A
  hgvsp: ENSP00000337897.4:p.Ile268Asn
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*255T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.803T>A
  hgvsp: ENSP00000417159.1:p.Ile268Asn
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.803T>A
  hgvsp: ENSP00000476755.1:p.Ile268Asn
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.803T>A
  hgvsp: ENSP00000349206.2:p.Ile268Asn
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.189T>A
  hgvsp: ENSP00000417975.1:p.Ile64Asn
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14052
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile268Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-202396269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396269
    reference: chr 1
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.803T>C
  hgvsp: ENSP00000417159.1:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.803T>C
  hgvsp: ENSP00000349206.2:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.189T>C
  hgvsp: ENSP00000417975.1:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*255T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.803T>C
  hgvsp: ENSP00000476755.1:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.803T>C
  hgvsp: ENSP00000337897.4:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile268Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-202396283-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396283
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.817C>G
  hgvsp: ENSP00000417159.1:p.Leu273Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*269C>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.817C>G
  hgvsp: ENSP00000337897.4:p.Leu273Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.817C>G
  hgvsp: ENSP00000349206.2:p.Leu273Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.203C>G
  hgvsp: ENSP00000417975.1:p.Leu69Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.817C>G
  hgvsp: ENSP00000476755.1:p.Leu273Val
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu273Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-202396286-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396286
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.820T>G
  hgvsp: ENSP00000417159.1:p.Cys274Gly
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.206T>G
  hgvsp: ENSP00000417975.1:p.Cys70Gly
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.820T>G
  hgvsp: ENSP00000337897.4:p.Cys274Gly
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*272T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.820T>G
  hgvsp: ENSP00000476755.1:p.Cys274Gly
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.820T>G
  hgvsp: ENSP00000349206.2:p.Cys274Gly
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys274Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-202396292-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396292
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396292
    reference: chr 1
allele count: 37
allele frequency: 3.04812746115697e-4
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.826A>G
  hgvsp: ENSP00000349206.2:p.Met276Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.212A>G
  hgvsp: ENSP00000417975.1:p.Met72Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.826A>G
  hgvsp: ENSP00000417159.1:p.Met276Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.826A>G
  hgvsp: ENSP00000337897.4:p.Met276Val
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*278A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.826A>G
  hgvsp: ENSP00000476755.1:p.Met276Val
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14059
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met276Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-202396295-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396295
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.829G>T
  hgvsp: ENSP00000349206.2:p.Asp277Tyr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*281G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.829G>T
  hgvsp: ENSP00000476755.1:p.Asp277Tyr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.829G>T
  hgvsp: ENSP00000417159.1:p.Asp277Tyr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.829G>T
  hgvsp: ENSP00000337897.4:p.Asp277Tyr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.215G>T
  hgvsp: ENSP00000417975.1:p.Asp73Tyr
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp277Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-202396298-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396298
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.218A>C
  hgvsp: ENSP00000417975.1:p.Ile74Leu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.832A>C
  hgvsp: ENSP00000476755.1:p.Ile278Leu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.832A>C
  hgvsp: ENSP00000417159.1:p.Ile278Leu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*284A>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.832A>C
  hgvsp: ENSP00000349206.2:p.Ile278Leu
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.832A>C
  hgvsp: ENSP00000337897.4:p.Ile278Leu
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile278Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-202396302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396302
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396302
    reference: chr 1
allele count: 4
allele frequency: 3.295815961636702e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.836G>A
  hgvsp: ENSP00000349206.2:p.Arg279Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.222G>A
  hgvsp: ENSP00000417975.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.836G>A
  hgvsp: ENSP00000337897.4:p.Arg279Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.836G>A
  hgvsp: ENSP00000476755.1:p.Arg279Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*288G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.836G>A
  hgvsp: ENSP00000417159.1:p.Arg279Gln
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14040
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg279Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-202396315-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396315
    reference: chr 1
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+3T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+3T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+3T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+3T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+3T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+3T>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5341
  bin: 7.75e1
  variant carriers: 0
hgvs: c.846+3T>A
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-202396317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396317
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+5G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+5G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+5G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+5G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+5G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+5G>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5338
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 9.25e1
  variant carriers: 0
hgvs: c.846+5G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-202396321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396321
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396321
    reference: chr 1
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+9G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+9G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+9G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+9G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+9G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+9G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 525
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1402
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3187
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2028
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

1-202396328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396328
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396328
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+16C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+16C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+16C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+16C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+16C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+16C>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-202396331-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396331
    reference: chr 1
allele count: 3
allele frequency: 2.473818751546137e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+19C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+19C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+19C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+19C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+19C>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+19C>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14024
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-202396333-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396333
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396333
    reference: chr 1
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+21A>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+21A>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+21A>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+21A>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+21A>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+21A>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14020
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-202396343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396343
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396343
    reference: chr 1
allele count: 6
allele frequency: 4.95221116228396e-5
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+31C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+31C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+31C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+31C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+31C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+31C>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-202396348-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396348
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396348
    reference: chr 1
allele count: 7
allele frequency: 5.780060442917774e-5
allele num: 121106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+36T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+36T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+36T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+36T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+36T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+36T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

1-202396354-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396354
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396354
    reference: chr 1
allele count: 9
allele frequency: 7.438385374481379e-5
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+42G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+42G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+42G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+42G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+42G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+42G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14002
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-202396357-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396357
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396357
    reference: chr 1
allele count: 2
allele frequency: 1.654725067430047e-5
allele num: 120866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+45G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+45G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+45G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+45G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+45G>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+45G>T
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13993
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-202396360-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396360
    reference: chr 1
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+48T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+48T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+48T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+48T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+48T>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+48T>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13992
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-202396360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396360
    reference: chr 1
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+48T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+48T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+48T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+48T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+48T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+48T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-202396364-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202396364
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202396364
    reference: chr 1
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.846+52T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.232+52T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.846+52T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.846+52T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.846+52T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*298+52T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-202397936-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202397936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202397936
    reference: chr 1
allele count: 1
allele frequency: 8.638413296245746e-6
allele num: 115762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.233-47T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.274T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.847-47T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.847-47T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*299-47T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.847-47T>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.847-47T>G
  variant of: http://identifiers.org/hgnc/7619
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-202397953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202397953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202397953
    reference: chr 1
allele count: 3
allele frequency: 2.575461007520346e-5
allele num: 116484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.291A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*299-30A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.847-30A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.233-30A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.847-30A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.847-30A>G
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.847-30A>G
  variant of: http://identifiers.org/hgnc/7619
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26943
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 36306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4874
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-202397961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202397961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202397961
    reference: chr 1
allele count: 1
allele frequency: 8.517162081594413e-6
allele num: 117410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.847-22T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.233-22T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.847-22T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.299T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.847-22T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*299-22T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.847-22T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-202398004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202398004
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202398004
    reference: chr 1
allele count: 4
allele frequency: 3.333055578701775e-5
allele num: 120010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.868G>A
  hgvsp: ENSP00000476755.1:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.342G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*320G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.254G>A
  hgvsp: ENSP00000417975.1:p.Ala86Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.868G>A
  hgvsp: ENSP00000349206.2:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.868G>A
  hgvsp: ENSP00000337897.4:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.868G>A
  hgvsp: ENSP00000417159.1:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala290Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

1-202398014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202398014
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202398014
    reference: chr 1
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.878G>A
  hgvsp: ENSP00000337897.4:p.Gly293Asp
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.352G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.878G>A
  hgvsp: ENSP00000349206.2:p.Gly293Asp
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.264G>A
  hgvsp: ENSP00000417975.1:p.Gly89Asp
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*330G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.878G>A
  hgvsp: ENSP00000417159.1:p.Gly293Asp
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.878G>A
  hgvsp: ENSP00000476755.1:p.Gly293Asp
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly293Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

1-202398018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202398018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202398018
    reference: chr 1
allele count: 10
allele frequency: 8.330556481172943e-5
allele num: 120040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.882C>T
  hgvsp: ENST00000356764.2:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.882C>T
  hgvsp: ENST00000608999.1:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.882C>T
  hgvsp: ENST00000336894.4:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.356C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.268C>T
  hgvsp: ENST00000466968.1:c.268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*334C>T
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.882C>T
  hgvsp: ENST00000480184.1:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu294Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

1-202398019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202398019
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202398019
    reference: chr 1
allele count: 5
allele frequency: 4.165625260351578e-5
allele num: 120030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*335G>A
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.883G>A
  hgvsp: ENSP00000349206.2:p.Val295Met
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.883G>A
  hgvsp: ENSP00000337897.4:p.Val295Met
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.883G>A
  hgvsp: ENSP00000417159.1:p.Val295Met
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.269G>A
  hgvsp: ENSP00000417975.1:p.Val91Met
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.883G>A
  hgvsp: ENSP00000476755.1:p.Val295Met
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.357G>A
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31195
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val295Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-202398020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202398020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202398020
    reference: chr 1
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.884T>C
  hgvsp: ENSP00000349206.2:p.Val295Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.270T>C
  hgvsp: ENSP00000417975.1:p.Val91Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*336T>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.884T>C
  hgvsp: ENSP00000417159.1:p.Val295Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.884T>C
  hgvsp: ENSP00000476755.1:p.Val295Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.884T>C
  hgvsp: ENSP00000337897.4:p.Val295Ala
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.358T>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val295Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-202398022-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202398022
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202398022
    reference: chr 1
allele count: 2
allele frequency: 1.666750004166875e-5
allele num: 119994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.360G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.886G>C
  hgvsp: ENSP00000417159.1:p.Glu296Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.886G>C
  hgvsp: ENSP00000337897.4:p.Glu296Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.272G>C
  hgvsp: ENSP00000417975.1:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*338G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.886G>C
  hgvsp: ENSP00000476755.1:p.Glu296Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.886G>C
  hgvsp: ENSP00000349206.2:p.Glu296Gln
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu296Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-202398031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202398031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202398031
    reference: chr 1
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417159
  ensembl transcript: ENST00000480184
  gene symbol: PPP1R12B
  hgvsc: ENST00000480184.1:c.895G>C
  hgvsp: ENSP00000417159.1:p.Glu299Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417814
  ensembl transcript: ENST00000476364
  gene symbol: PPP1R12B
  hgvsc: ENST00000476364.1:c.*347G>C
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000349206
  ensembl transcript: ENST00000356764
  gene symbol: PPP1R12B
  hgvsc: ENST00000356764.2:c.895G>C
  hgvsp: ENSP00000349206.2:p.Glu299Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000337897
  ensembl transcript: ENST00000336894
  gene symbol: PPP1R12B
  hgvsc: ENST00000336894.4:c.895G>C
  hgvsp: ENSP00000337897.4:p.Glu299Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000417975
  ensembl transcript: ENST00000466968
  gene symbol: PPP1R12B
  hgvsc: ENST00000466968.1:c.281G>C
  hgvsp: ENSP00000417975.1:p.Glu95Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077157
  ensembl protein: ENSP00000476755
  ensembl transcript: ENST00000608999
  gene symbol: PPP1R12B
  hgvsc: ENST00000608999.1:c.895G>C
  hgvsp: ENSP00000476755.1:p.Glu299Gln
  variant of: http://identifiers.org/hgnc/7619
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077157
  ensembl transcript: ENST00000488330
  gene symbol: PPP1R12B
  hgvsc: ENST00000488330.1:n.369G>C
  variant of: http://identifiers.org/hgnc/7619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu299Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.246e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 5.400796e6

FS
type: SiteQuality
SIO_000300: 1.794e0

MQ
type: SiteQuality
SIO_000300: 5.142e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.022e0

FS
type: SiteQuality
SIO_000300: 7.464e0

DP
type: SiteQuality
SIO_000300: 5.399776e6

MQRankSum
type: SiteQuality
SIO_000300: -1.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 4.727e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
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GenotypeQuality
all individuals: 249
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.394512e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQ
type: SiteQuality
SIO_000300: 4.569e1

VQSLOD
type: SiteQuality
SIO_000300: -2.433e0

FS
type: SiteQuality
SIO_000300: 2.368e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.78e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5
bin: 1.25e1
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GenotypeQuality
all individuals: 270
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variant carriers: 0

GenotypeQuality
all individuals: 51957
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 1.0826e1

DP
type: SiteQuality
SIO_000300: 5.384806e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 4.558e1

VQSLOD
type: SiteQuality
SIO_000300: -2.077e0

QD
type: SiteQuality
SIO_000300: 1.393e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

GenotypeQuality
all individuals: 680
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005801196308876e-5
allele num: 66538
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 1.1843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 5.482e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -1.908e0

DP
type: SiteQuality
SIO_000300: 5.375098e6

GenotypeQuality
all individuals: 3838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51957
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.692e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.865e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 5.368686e6

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.003e0

MQ
type: SiteQuality
SIO_000300: 4.571e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
all individuals: 529
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51980
bin: 9.75e1
variant carriers: 309

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.779233288383741e-4
allele num: 10382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 284
allele frequency: 3.283996299722479e-2
allele num: 8648
num of homozygotes: 6

South Asian
type: Population
allele count: 23
allele frequency: 1.423795963847963e-3
allele num: 16154
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.361e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

DP
type: SiteQuality
SIO_000300: 5.363101e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.075e0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 1.037e0

MQ
type: SiteQuality
SIO_000300: 4.644e1

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51947
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.237623762376238e-4
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 5.355686e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.592e1

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

FS
type: SiteQuality
SIO_000300: 1.362e0

MQ
type: SiteQuality
SIO_000300: 4.803e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
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GenotypeQuality
all individuals: 51946
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.749e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 3.015e0

VQSLOD
type: SiteQuality
SIO_000300: -2.127e0

MQ
type: SiteQuality
SIO_000300: 4.512e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 5.352984e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.133e1

GenotypeQuality
all individuals: 216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
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variant carriers: 0

GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.723e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.149e0

VQSLOD
type: SiteQuality
SIO_000300: -3.146e0

QD
type: SiteQuality
SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.103e0

FS
type: SiteQuality
SIO_000300: 2.657e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e0

DP
type: SiteQuality
SIO_000300: 5.349964e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 975
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GenotypeQuality
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GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 9.63e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: -8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQ
type: SiteQuality
SIO_000300: 4.783e1

DP
type: SiteQuality
SIO_000300: 5.349678e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 967
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
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GenotypeQuality
all individuals: 484
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GenotypeQuality
all individuals: 1006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 326
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.135e-1

FS
type: SiteQuality
SIO_000300: 3.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 4.751e1

DP
type: SiteQuality
SIO_000300: 5.347911e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.187e0

GenotypeQuality
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bin: 7.5e0
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
all individuals: 274
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GenotypeQuality
all individuals: 51945
bin: 9.75e1
variant carriers: 3

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514129224472599e-5
allele num: 66458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.509e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e0

QD
type: SiteQuality
SIO_000300: 1.468e1

MQ
type: SiteQuality
SIO_000300: 5.596e1

FS
type: SiteQuality
SIO_000300: 3.514e0

DP
type: SiteQuality
SIO_000300: 5.347918e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 939
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
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African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.937e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 5.347513e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e0

FS
type: SiteQuality
SIO_000300: 4.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 4.856e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3102
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GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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South Asian
type: Population
allele count: 6
allele frequency: 3.838771593090211e-4
allele num: 15630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.19603e6

MQ
type: SiteQuality
SIO_000300: 5.759e1

QD
type: SiteQuality
SIO_000300: 1.46e1

VQSLOD
type: SiteQuality
SIO_000300: -1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 3.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.186943620178041e-3
allele num: 10110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.568e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 2.200362e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.448e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.06e1

FS
type: SiteQuality
SIO_000300: 1.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1975
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GenotypeQuality
all individuals: 94
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GenotypeQuality
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GenotypeQuality
all individuals: 14088
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GenotypeQuality
all individuals: 19094
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 4.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 2.201725e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 8.013e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

VQSLOD
type: SiteQuality
SIO_000300: -7.164e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 3114
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GenotypeQuality
all individuals: 14088
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 262
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

African
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allele count: 0
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allele num: 10110
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 8.013e0

VQSLOD
type: SiteQuality
SIO_000300: -7.164e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.985e1

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 3.288e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.003e1

QD
type: SiteQuality
SIO_000300: 7.3e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.335529650278763e-5
allele num: 15784
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 7.231e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.32e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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FS
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

MQ
type: SiteQuality
SIO_000300: 4.711e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
all individuals: 19892
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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
all individuals: 103
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GenotypeQuality
all individuals: 3139
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 2.214277e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 3.289e0

MQ
type: SiteQuality
SIO_000300: 5.756e1

VQSLOD
type: SiteQuality
SIO_000300: -1.28e0

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4222
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.83477576711251e-5
allele num: 10168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.673e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

FS
type: SiteQuality
SIO_000300: 6.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.221413e6

VQSLOD
type: SiteQuality
SIO_000300: -1.912e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.973e0

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 1999
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511006856730422e-5
allele num: 66504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 2.5e0

DP
type: SiteQuality
SIO_000300: 2.221941e6

FS
type: SiteQuality
SIO_000300: 1.37023e2

BaseQRankSum
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SIO_000300: -4.781e0

VQSLOD
type: SiteQuality
SIO_000300: -9.740000000000001e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.559e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 4.316e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14084
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.965022597759874e-4
allele num: 10178
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 1.993e0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

MQ
type: SiteQuality
SIO_000300: 4.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

DP
type: SiteQuality
SIO_000300: 2.22373e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 10
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5223
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GenotypeQuality
all individuals: 16
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.012686769082765e-5
allele num: 66526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.094e0

FS
type: SiteQuality
SIO_000300: 1.30641e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.816e0

DP
type: SiteQuality
SIO_000300: 2.224429e6

VQSLOD
type: SiteQuality
SIO_000300: -9.493000000000001e1

QD
type: SiteQuality
SIO_000300: 2.97e0

MQ
type: SiteQuality
SIO_000300: 4.362e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 22
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.144e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQ
type: SiteQuality
SIO_000300: 4.292e1

FS
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

DP
type: SiteQuality
SIO_000300: 2.230261e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.631e1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.57e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.235921e6

BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 87

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

African
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allele count: 86
allele frequency: 8.30757341576507e-3
allele num: 10352
num of homozygotes: 0

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

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

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

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

Other
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African
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

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

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

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

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

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

Other
type: Population
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Latino
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African
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South Asian
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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num of homozygotes: 0

Other
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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SIO_000300: -6.78e-1

MQ
type: SiteQuality
SIO_000300: 4.039e1

FS
type: SiteQuality
SIO_000300: 7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.131e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.694e0

MQ
type: SiteQuality
SIO_000300: 3.703e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.236013e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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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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variant carriers: 1

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.236252e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.255e1

BaseQRankSum
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SIO_000300: 4.86e0

ReadPosRankSum
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SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.129e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.277e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.685e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14062
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.236e1

VQSLOD
type: SiteQuality
SIO_000300: -3.429e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 3.833e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1

DP
type: SiteQuality
SIO_000300: 2.236198e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.413e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

QD
type: SiteQuality
SIO_000300: 1.874e1

VQSLOD
type: SiteQuality
SIO_000300: -5.992e0

DP
type: SiteQuality
SIO_000300: 2.236514e6

FS
type: SiteQuality
SIO_000300: 1.698e1

MQ
type: SiteQuality
SIO_000300: 4.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.01e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 4
bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 4.724e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

DP
type: SiteQuality
SIO_000300: 2.236472e6

MQ
type: SiteQuality
SIO_000300: 4.595e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.738e0

MQ
type: SiteQuality
SIO_000300: 4.544e1

FS
type: SiteQuality
SIO_000300: 2.569e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.622e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 2.485e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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allele count: 0
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allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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DP
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 4.699e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.804e1

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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allele num: 16512
num of homozygotes: 0

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

MQ
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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FS
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MQRankSum
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SIO_000300: 4.07e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 0.0e0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
SIO_000300: 1.981e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 4.849e1

DP
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SIO_000300: 2.236153e6

QD
type: SiteQuality
SIO_000300: 1.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.271e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

FS
type: SiteQuality
SIO_000300: 3.875e0

DP
type: SiteQuality
SIO_000300: 2.236115e6

MQ
type: SiteQuality
SIO_000300: 4.017e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 10404
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 37
allele frequency: 5.544732504121085e-4
allele num: 66730
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.351e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.29e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 2.238061e6

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 4.969e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
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African
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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DP
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SIO_000300: 2.235836e6

FS
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 3.467406380027739e-4
allele num: 8652
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.744e1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66710
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African
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MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

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

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

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

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

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

Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e0

DP
type: SiteQuality
SIO_000300: 2.232566e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.543e0

VQSLOD
type: SiteQuality
SIO_000300: -3.956e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.072e1

QD
type: SiteQuality
SIO_000300: 1.345e1

FS
type: SiteQuality
SIO_000300: 5.639e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.075e0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

VQSLOD
type: SiteQuality
SIO_000300: -1.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.229446e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

FS
type: SiteQuality
SIO_000300: 6.989e0

MQ
type: SiteQuality
SIO_000300: 5.487e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.985e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.211e0

MQ
type: SiteQuality
SIO_000300: 4.808e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

DP
type: SiteQuality
SIO_000300: 2.227832e6

FS
type: SiteQuality
SIO_000300: 1.5431e1

QD
type: SiteQuality
SIO_000300: 9.17e0

GenotypeQuality
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bin: 7.75e1
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
all individuals: 3269
bin: 7.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.226059e6

FS
type: SiteQuality
SIO_000300: 3.737e0

MQ
type: SiteQuality
SIO_000300: 4.615e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: -1.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14013
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3217
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.881234232485931e-4
allele num: 10306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.095e0

MQ
type: SiteQuality
SIO_000300: 4.529e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 2.207067e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

FS
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 14008
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3173
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variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.065857885615251e-4
allele num: 11540
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 2.191959e6

QD
type: SiteQuality
SIO_000300: 1.378e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQ
type: SiteQuality
SIO_000300: 4.657e1

VQSLOD
type: SiteQuality
SIO_000300: -1.662e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6499
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.045539033457249e-3
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQ
type: SiteQuality
SIO_000300: 4.633e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 2.169062e6

VQSLOD
type: SiteQuality
SIO_000300: -2.432e0

FS
type: SiteQuality
SIO_000300: 1.2728e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.201e0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 8.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.155014e6

QD
type: SiteQuality
SIO_000300: 1.485e1

MQ
type: SiteQuality
SIO_000300: 4.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1995
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.144794e6

FS
type: SiteQuality
SIO_000300: 7.633e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 4.735e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

DP
type: SiteQuality
SIO_000300: 2.144794e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.735e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.811e0

FS
type: SiteQuality
SIO_000300: 7.633e0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.509e1

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
all individuals: 5882
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GenotypeQuality
all individuals: 176
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 4.794e1

ReadPosRankSum
type: SiteQuality
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FS
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

DP
type: SiteQuality
SIO_000300: 2.139087e6

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15358
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.196247930844215e-5
allele num: 10874
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
type: SiteQuality
SIO_000300: 1.570147e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

East Asian
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allele frequency: 2.425418384671356e-4
allele num: 8246
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Latino
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allele frequency: 0.0e0
allele num: 10946
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South Asian
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allele count: 1
allele frequency: 6.469142191745374e-5
allele num: 15458
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 864
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10064
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64626
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InbreedingCoeff
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QD
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.853e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
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Latino
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allele count: 1
allele frequency: 9.041591320072333e-5
allele num: 11060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65106
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.032272658724174e-5
allele num: 66310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.770583e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.519e0

VQSLOD
type: SiteQuality
SIO_000300: -1.279e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.858e1

QD
type: SiteQuality
SIO_000300: 1.16e1

GenotypeQuality
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variant carriers: 1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.641e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.770427e6

QD
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.050046758574919e-5
allele num: 66298
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Latino
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6444
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East Asian
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Other
type: Population
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allele num: 900
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South Asian
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allele frequency: 2.49003984063745e-4
allele num: 16064
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QD
type: SiteQuality
SIO_000300: 1.185e1

ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 1.77163e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

East Asian
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European (Non-Finnish)
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allele frequency: 1.508250128201261e-5
allele num: 66302
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African
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allele count: 3
allele frequency: 2.908103916246607e-4
allele num: 10316
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 900
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South Asian
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allele num: 16054
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Latino
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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MQRankSum
type: SiteQuality
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DP
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QD
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Other
type: Population
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e-1