6-42976204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976204
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976204
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1017C>T
  hgvsp: ENST00000485511.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.699C>T
  hgvsp: ENST00000461010.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.188C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.921C>T
  hgvsp: ENST00000394110.3:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.775C>T
  hgvsp: ENST00000470467.1:c.775C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*698C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.993C>T
  hgvsp: ENST00000472118.1:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  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: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26231
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12600
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr339Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

6-42976205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976205
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976205
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.922C>T
  hgvsp: ENSP00000377669.3:p.His308Tyr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.776C>T
  hgvsp: ENSP00000419756.1:p.His260Tyr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1018C>T
  hgvsp: ENSP00000417963.1:p.His340Tyr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.700C>T
  hgvsp: ENSP00000420674.1:p.His234Tyr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.994C>T
  hgvsp: ENSP00000420550.1:p.His332Tyr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*699C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.189C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His340Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-42976221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976221
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976221
    reference: chr 6
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+8G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+8G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+8G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+8G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+8G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+8G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+8G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1026+8G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

6-42976222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976222
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976222
    reference: chr 6
allele count: 6
allele frequency: 4.945761482409575e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+9C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

6-42976226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976226
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976226
    reference: chr 6
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+13C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+13C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+13C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+13C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+13C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+13C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+13C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

6-42976232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976232
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976232
    reference: chr 6
allele count: 7
allele frequency: 5.778342771293193e-5
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+19T>C
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30387
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 9.25e1
  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: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-42976232-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976232
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976232
    reference: chr 6
allele count: 23802
allele frequency: 1.964801637747437e-1
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+19T>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+19T>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+19T>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+19T>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+19T>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+19T>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+19T>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 1021
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 6.75e1
  variant carriers: 1603
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 3.25e1
  variant carriers: 1150
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 3.75e1
  variant carriers: 1495
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 1934
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 6.25e1
  variant carriers: 1777
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 4.25e1
  variant carriers: 1771
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 2.75e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 612
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.75e1
  variant carriers: 1996
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.25e1
  variant carriers: 803
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 9.75e1
  variant carriers: 1484
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.25e1
  variant carriers: 1930
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.25e1
  variant carriers: 1291
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 6.75e1
  variant carriers: 31
num of homozygotes: 3342
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

6-42976233-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976233
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976233
    reference: chr 6
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+20A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+20A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+20A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+20A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+20A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+20A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+20A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

6-42976234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976234
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976234
    reference: chr 6
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+21T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+21T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+21T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+21T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+21T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+21T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+21T>C
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-42976237-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976237
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976237
    reference: chr 6
allele count: 2
allele frequency: 1.650764303872693e-5
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+24T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+24T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+24T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+24T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+24T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+24T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+24T>C
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-42976240-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976240
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976240
    reference: chr 6
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1002+27C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*707+27C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+27C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.930+27C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1026+27C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.197+27C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.708+27C>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

6-42976384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976384
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976384
    reference: chr 6
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1003-47C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.931-47C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*708-47C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+171C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1027-47C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.709-47C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.198-47C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18244
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS

6-42976389-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976389
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976389
    reference: chr 6
allele count: 2
allele frequency: 1.666611112962901e-5
allele num: 120004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.709-42A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1003-42A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.198-42A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.931-42A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+176A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1027-42A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*708-42A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-42976393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976393
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976393
    reference: chr 6
allele count: 2
allele frequency: 1.665667266306883e-5
allele num: 120072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.709-38C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*708-38C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.198-38C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+180C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.931-38C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1027-38C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1003-38C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

6-42976399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976399
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976399
    reference: chr 6
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+186C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.931-32C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*708-32C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.198-32C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1027-32C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.709-32C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1003-32C>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

6-42976419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976419
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976419
    reference: chr 6
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+206A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.198-12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.709-12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*708-12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1027-12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.931-12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1003-12A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

6-42976422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976422
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976422
    reference: chr 6
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.709-9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*708-9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1027-9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.198-9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.931-9C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+209C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1003-9C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

6-42976431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976431
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976431
    reference: chr 6
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.931C>T
  hgvsp: ENST00000394110.3:c.931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1027C>T
  hgvsp: ENST00000485511.1:c.1027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+218C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*708C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.709C>T
  hgvsp: ENST00000461010.1:c.709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.198C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1003C>T
  hgvsp: ENST00000472118.1:c.1003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7021
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1027C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-42976473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976473
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976473
    reference: chr 6
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.751C>T
  hgvsp: ENST00000461010.1:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.973C>T
  hgvsp: ENST00000394110.3:c.973C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1069C>T
  hgvsp: ENST00000485511.1:c.1069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.240C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1045C>T
  hgvsp: ENST00000472118.1:c.1045C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*750C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+260C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu357Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-42976483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976483
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976483
    reference: chr 6
allele count: 2
allele frequency: 1.695317532973926e-5
allele num: 117972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*760C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.761C>T
  hgvsp: ENSP00000420674.1:p.Pro254Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1055C>T
  hgvsp: ENSP00000420550.1:p.Pro352Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.983C>T
  hgvsp: ENSP00000377669.3:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.250C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+270C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1079C>T
  hgvsp: ENSP00000417963.1:p.Pro360Leu
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro360Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

6-42976490-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976490
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976490
    reference: chr 6
allele count: 1
allele frequency: 8.551832657738554e-6
allele num: 116934
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1080+6T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.762+6T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*761+6T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.984+6T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1056+6T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+277T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.251+6T>C
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17283
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1080+6T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-42976498-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976498
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976498
    reference: chr 6
allele count: 2
allele frequency: 1.730732619117673e-5
allele num: 115558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1056+14C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1080+14C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*761+14C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.762+14C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.984+14C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+285C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.251+14C>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

6-42976498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976498
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976498
    reference: chr 6
allele count: 16
allele frequency: 1.384586095294138e-4
allele num: 115558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.762+14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1080+14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*761+14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1056+14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+285C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.984+14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.251+14C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19273
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

6-42976499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976499
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976499
    reference: chr 6
allele count: 1
allele frequency: 8.68357068426537e-6
allele num: 115160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.784+286G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.984+15G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.762+15G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*761+15G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.251+15G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1080+15G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1056+15G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18348
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

6-42976520-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976520
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976520
    reference: chr 6
allele count: 1
allele frequency: 8.886045354375489e-6
allele num: 112536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.984+36A>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1080+36A>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.762+36A>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.251+36A>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-275A>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*761+36A>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1056+36A>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

6-42976527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976527
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976527
    reference: chr 6
allele count: 2
allele frequency: 1.811627022228664e-5
allele num: 110398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1080+43G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.762+43G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1056+43G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*761+43G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.984+43G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.251+43G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-268G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

6-42976747-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976747
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976747
    reference: chr 6
allele count: 2
allele frequency: 1.711039627677777e-5
allele num: 116888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-48T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.252-48T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.763-48T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.985-48T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*762-48T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1081-48T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1057-48T>C
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

6-42976748-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976748
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976748
    reference: chr 6
allele count: 1
allele frequency: 8.557101538566857e-6
allele num: 116862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.763-47A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*762-47A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1057-47A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.985-47A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-47A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1081-47A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.252-47A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-42976754-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976754
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976754
    reference: chr 6
allele count: 1
allele frequency: 8.543065593657628e-6
allele num: 117054
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1081-41G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.985-41G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-41G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1057-41G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*762-41G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.763-41G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.252-41G>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-42976776-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976776
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976776
    reference: chr 6
allele count: 1
allele frequency: 8.442523301364311e-6
allele num: 118448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*762-19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.252-19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1057-19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.763-19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1081-19T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.985-19T>C
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

6-42976778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976778
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976778
    reference: chr 6
allele count: 2
allele frequency: 1.685942610513538e-5
allele num: 118628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.985-17C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*762-17C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.763-17C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.252-17C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1081-17C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-17C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1057-17C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29910
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

6-42976782-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976782
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976779
    reference: chr 6
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.785-12_785-10delCTT
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.252-12_252-10delCTT
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1081-12_1081-10delCTT
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.985-12_985-10delCTT
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.763-12_763-10delCTT
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*762-12_*762-10delCTT
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1057-12_1057-10delCTT
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: CCTT
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

6-42976824-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976824
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976824
    reference: chr 6
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1014C>G
  hgvsp: ENST00000394110.3:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*791C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.281C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1086C>G
  hgvsp: ENST00000472118.1:c.1086C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.792C>G
  hgvsp: ENST00000461010.1:c.792C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.814C>G
  hgvsp: ENST00000470467.1:c.814C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1110C>G
  hgvsp: ENST00000485511.1:c.1110C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29946
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro370Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-42976845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976845
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976845
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1131G>A
  hgvsp: ENST00000485511.1:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.835G>A
  hgvsp: ENST00000470467.1:c.835G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.813G>A
  hgvsp: ENST00000461010.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1107G>A
  hgvsp: ENST00000472118.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1035G>A
  hgvsp: ENST00000394110.3:c.1035G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*812G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.302G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu377Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

6-42976855-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976855
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976855
    reference: chr 6
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.823T>C
  hgvsp: ENST00000461010.1:c.823T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*822T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1117T>C
  hgvsp: ENST00000472118.1:c.1117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1045T>C
  hgvsp: ENST00000394110.3:c.1045T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.312T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.5T>C
  hgvsp: ENST00000486843.1:c.5T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.845T>C
  hgvsp: ENST00000470467.1:c.845T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1141T>C
  hgvsp: ENST00000485511.1:c.1141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10191
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu381Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

6-42976881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976881
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976881
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.338C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.871C>T
  hgvsp: ENST00000470467.1:c.871C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1143C>T
  hgvsp: ENST00000472118.1:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1167C>T
  hgvsp: ENST00000485511.1:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.31C>T
  hgvsp: ENST00000486843.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1071C>T
  hgvsp: ENST00000394110.3:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*848C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.849C>T
  hgvsp: ENST00000461010.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp389Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

6-42976882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976882
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976882
    reference: chr 6
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*849G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.872G>A
  hgvsp: ENSP00000419756.1:p.Val292Ile
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1072G>A
  hgvsp: ENSP00000377669.3:p.Val358Ile
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1168G>A
  hgvsp: ENSP00000417963.1:p.Val390Ile
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.32G>A
  hgvsp: ENSP00000420529.1:p.Val12Ile
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1144G>A
  hgvsp: ENSP00000420550.1:p.Val382Ile
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.850G>A
  hgvsp: ENSP00000420674.1:p.Val284Ile
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.339G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val390Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

6-42976885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976885
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976885
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.853A>G
  hgvsp: ENSP00000420674.1:p.Ile285Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.875A>G
  hgvsp: ENSP00000419756.1:p.Ile293Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.35A>G
  hgvsp: ENSP00000420529.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1075A>G
  hgvsp: ENSP00000377669.3:p.Ile359Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1171A>G
  hgvsp: ENSP00000417963.1:p.Ile391Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1147A>G
  hgvsp: ENSP00000420550.1:p.Ile383Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.342A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*852A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile391Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-42976899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976899
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976899
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*866G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.889G>A
  hgvsp: ENST00000470467.1:c.889G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.867G>A
  hgvsp: ENST00000461010.1:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.49G>A
  hgvsp: ENST00000486843.1:c.49G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1161G>A
  hgvsp: ENST00000472118.1:c.1161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1089G>A
  hgvsp: ENST00000394110.3:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1185G>A
  hgvsp: ENST00000485511.1:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.356G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu395Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

6-42976902-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976902
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976902
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1164C>G
  hgvsp: ENSP00000420550.1:p.Phe388Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.892C>G
  hgvsp: ENSP00000419756.1:p.Phe298Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.52C>G
  hgvsp: ENSP00000420529.1:p.Phe18Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1188C>G
  hgvsp: ENSP00000417963.1:p.Phe396Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.359C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*869C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.870C>G
  hgvsp: ENSP00000420674.1:p.Phe290Leu
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1092C>G
  hgvsp: ENSP00000377669.3:p.Phe364Leu
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe396Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

6-42976903-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976903
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976903
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.53A>G
  hgvsp: ENSP00000420529.1:p.Ser19Gly
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1189A>G
  hgvsp: ENSP00000417963.1:p.Ser397Gly
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.893A>G
  hgvsp: ENSP00000419756.1:p.Ser299Gly
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1093A>G
  hgvsp: ENSP00000377669.3:p.Ser365Gly
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*870A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.871A>G
  hgvsp: ENSP00000420674.1:p.Ser291Gly
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1165A>G
  hgvsp: ENSP00000420550.1:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.360A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser397Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-42976926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976926
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976926
    reference: chr 6
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.916C>T
  hgvsp: ENST00000470467.1:c.916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1188C>T
  hgvsp: ENST00000472118.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.383C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.894C>T
  hgvsp: ENST00000461010.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*893C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1116C>T
  hgvsp: ENST00000394110.3:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.76C>T
  hgvsp: ENST00000486843.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1212C>T
  hgvsp: ENST00000485511.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29966
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe404Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

6-42976928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976928
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976928
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.78G>A
  hgvsp: ENSP00000420529.1:p.Arg27His
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1190G>A
  hgvsp: ENSP00000420550.1:p.Arg397His
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*895G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1214G>A
  hgvsp: ENSP00000417963.1:p.Arg405His
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.385G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1118G>A
  hgvsp: ENSP00000377669.3:p.Arg373His
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.896G>A
  hgvsp: ENSP00000420674.1:p.Arg299His
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.918G>A
  hgvsp: ENSP00000419756.1:p.Arg307His
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg405His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-42976941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976941
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976941
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.91G>A
  hgvsp: ENST00000486843.1:c.91G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.931G>A
  hgvsp: ENST00000470467.1:c.931G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1203G>A
  hgvsp: ENST00000472118.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.909G>A
  hgvsp: ENST00000461010.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1131G>A
  hgvsp: ENST00000394110.3:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1227G>A
  hgvsp: ENST00000485511.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*908G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys409Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

6-42976947-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976947
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976947
    reference: chr 6
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.937C>G
  hgvsp: ENST00000470467.1:c.937C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.404C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1233C>G
  hgvsp: ENST00000485511.1:c.1233C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1137C>G
  hgvsp: ENST00000394110.3:c.1137C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.915C>G
  hgvsp: ENST00000461010.1:c.915C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.97C>G
  hgvsp: ENST00000486843.1:c.97C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1209C>G
  hgvsp: ENST00000472118.1:c.1209C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*914C>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val411Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

6-42976949-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976949
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976949
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*916C>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.917C>G
  hgvsp: ENSP00000420674.1:p.Ser306Cys
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1139C>G
  hgvsp: ENSP00000377669.3:p.Ser380Cys
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1235C>G
  hgvsp: ENSP00000417963.1:p.Ser412Cys
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.939C>G
  hgvsp: ENSP00000419756.1:p.Ser314Cys
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.99C>G
  hgvsp: ENSP00000420529.1:p.Ser34Cys
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1211C>G
  hgvsp: ENSP00000420550.1:p.Ser404Cys
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.406C>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser412Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

6-42976950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976950
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976950
    reference: chr 6
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1212T>C
  hgvsp: ENST00000472118.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.407T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*917T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.918T>C
  hgvsp: ENST00000461010.1:c.918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1236T>C
  hgvsp: ENST00000485511.1:c.1236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1140T>C
  hgvsp: ENST00000394110.3:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.100T>C
  hgvsp: ENST00000486843.1:c.100T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.940T>C
  hgvsp: ENST00000470467.1:c.940T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser412Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/6-42976956-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976956
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976956
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.946C>A
  hgvsp: ENST00000470467.1:c.946C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.413C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.106C>A
  hgvsp: ENST00000486843.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1218C>A
  hgvsp: ENST00000472118.1:c.1218C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1146C>A
  hgvsp: ENST00000394110.3:c.1146C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.924C>A
  hgvsp: ENST00000461010.1:c.924C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*923C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1242C>A
  hgvsp: ENST00000485511.1:c.1242C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro414Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

6-42976977-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42976977
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42976977
    reference: chr 6
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.115+12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.955+12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1155+12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1227+12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.422+12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.933+12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*932+12A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1251+12A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

6-42977001-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977001
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977001
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.955+36A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*932+36A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1155+36A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1251+36A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1227+36A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.422+36A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.115+36A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.933+36A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
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: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

6-42977006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977006
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977006
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.955+41C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.115+41C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1155+41C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1227+41C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*932+41C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.933+41C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1251+41C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.422+41C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-42977016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977016
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977016
    reference: chr 6
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-44G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-44G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-44G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-44G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-44G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-44G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-44G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-44G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29968
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

6-42977016-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977016
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977016
    reference: chr 6
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-44G>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-44G>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-44G>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-44G>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-44G>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-44G>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-44G>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-44G>C
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-42977016-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977016
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977016
    reference: chr 6
allele count: 5
allele frequency: 4.118548294097296e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-44G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-44G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-44G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-44G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-44G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-44G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-44G>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-44G>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

6-42977025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977025
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977025
    reference: chr 6
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-35G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-35G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-35G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-35G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-35G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-35G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-35G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  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
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ

6-42977027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977027
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977027
    reference: chr 6
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-33G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-33G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-33G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-33G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-33G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-33G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-33G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

6-42977033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977033
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977033
    reference: chr 6
allele count: 143
allele frequency: 1.177924217462933e-3
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-27C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-27C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-27C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-27C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-27C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-27C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-27C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30031
  bin: 9.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 10064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-42977033-CCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977033
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977030
    reference: chr 6
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-24_1228-22delACC
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-24_116-22delACC
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-24_934-22delACC
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-24_*933-22delACC
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-24_423-22delACC
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-24_1156-22delACC
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-24_1252-22delACC
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-24_956-22delACC
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30031
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: CCCA
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

6-42977037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977037
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977037
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-23C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-23C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-23C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-23C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-23C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-23C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-23C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-23C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-42977038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977038
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977038
    reference: chr 6
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-22C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-22C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-22C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-22C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-22C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-22C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-22C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-22C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30000
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

6-42977039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977039
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977039
    reference: chr 6
allele count: 5
allele frequency: 4.11868399808893e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-21G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-21G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-21G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-21G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-21G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-21G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-21G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-21G>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30003
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

6-42977046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977046
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977046
    reference: chr 6
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-14C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-14C>T
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30000
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/6-42977053-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977053
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977053
    reference: chr 6
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-7C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-7C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-7C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-7C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-7C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-7C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-7C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-7C>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1252-7C>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-42977054-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977054
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977054
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1228-6C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.116-6C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.956-6C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1252-6C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.423-6C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1156-6C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*933-6C>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.934-6C>A
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.75e1
  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: 4007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1252-6C>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-42977075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977075
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977075
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.971C>T
  hgvsp: ENSP00000419756.1:p.Leu325Phe
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*948C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.438C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1243C>T
  hgvsp: ENSP00000420550.1:p.Leu415Phe
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.949C>T
  hgvsp: ENSP00000420674.1:p.Leu317Phe
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1267C>T
  hgvsp: ENSP00000417963.1:p.Leu423Phe
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.131C>T
  hgvsp: ENSP00000420529.1:p.Leu45Phe
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1171C>T
  hgvsp: ENSP00000377669.3:p.Leu391Phe
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  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: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu423Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-42977092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977092
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977092
    reference: chr 6
allele count: 580
allele frequency: 4.777358614895475e-3
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.988T>C
  hgvsp: ENST00000470467.1:c.988T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.966T>C
  hgvsp: ENST00000461010.1:c.966T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*965T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.455T>C
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.148T>C
  hgvsp: ENST00000486843.1:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1260T>C
  hgvsp: ENST00000472118.1:c.1260T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1188T>C
  hgvsp: ENST00000394110.3:c.1188T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1284T>C
  hgvsp: ENST00000485511.1:c.1284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 509
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 4.75e1
  variant carriers: 3
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: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn428Asn
num of homozygotes: 3
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

6-42977098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977098
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977098
    reference: chr 6
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.994C>T
  hgvsp: ENST00000470467.1:c.994C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.154C>T
  hgvsp: ENST00000486843.1:c.154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1194C>T
  hgvsp: ENST00000394110.3:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.972C>T
  hgvsp: ENST00000461010.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.461C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1266C>T
  hgvsp: ENST00000472118.1:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*971C>T
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1290C>T
  hgvsp: ENST00000485511.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30157
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Tyr430Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

6-42977111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977111
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977111
    reference: chr 6
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.167A>G
  hgvsp: ENSP00000420529.1:p.Ile57Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.474A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*984A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1279A>G
  hgvsp: ENSP00000420550.1:p.Ile427Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1207A>G
  hgvsp: ENSP00000377669.3:p.Ile403Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.1007A>G
  hgvsp: ENSP00000419756.1:p.Ile337Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.985A>G
  hgvsp: ENSP00000420674.1:p.Ile329Val
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1303A>G
  hgvsp: ENSP00000417963.1:p.Ile435Val
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile435Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

6-42977126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977126
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977126
    reference: chr 6
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1294G>A
  hgvsp: ENSP00000420550.1:p.Ala432Thr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.1022G>A
  hgvsp: ENSP00000419756.1:p.Ala342Thr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.489G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.182G>A
  hgvsp: ENSP00000420529.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.1000G>A
  hgvsp: ENSP00000420674.1:p.Ala334Thr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1318G>A
  hgvsp: ENSP00000417963.1:p.Ala440Thr
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*999G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1222G>A
  hgvsp: ENSP00000377669.3:p.Ala408Thr
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala440Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

6-42977130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977130
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977130
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1226G>A
  hgvsp: ENSP00000377669.3:p.Arg409Gln
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*1003G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1298G>A
  hgvsp: ENSP00000420550.1:p.Arg433Gln
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.493G>A
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.1026G>A
  hgvsp: ENSP00000419756.1:p.Arg343Gln
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.186G>A
  hgvsp: ENSP00000420529.1:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1322G>A
  hgvsp: ENSP00000417963.1:p.Arg441Gln
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.1004G>A
  hgvsp: ENSP00000420674.1:p.Arg335Gln
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg441Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-42977131-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42977131
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 42977131
    reference: chr 6
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000417963
  ensembl transcript: ENST00000485511
  gene symbol: PPP2R5D
  hgvsc: ENST00000485511.1:c.1323A>G
  hgvsp: ENST00000485511.1:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000419756
  ensembl transcript: ENST00000470467
  gene symbol: PPP2R5D
  hgvsc: ENST00000470467.1:c.1027A>G
  hgvsp: ENST00000470467.1:c.1027A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420529
  ensembl transcript: ENST00000486843
  gene symbol: PPP2R5D
  hgvsc: ENST00000486843.1:c.187A>G
  hgvsp: ENST00000486843.1:c.187A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420550
  ensembl transcript: ENST00000472118
  gene symbol: PPP2R5D
  hgvsc: ENST00000472118.1:c.1299A>G
  hgvsp: ENST00000472118.1:c.1299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000377669
  ensembl transcript: ENST00000394110
  gene symbol: PPP2R5D
  hgvsc: ENST00000394110.3:c.1227A>G
  hgvsp: ENST00000394110.3:c.1227A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112640
  ensembl transcript: ENST00000482315
  gene symbol: PPP2R5D
  hgvsc: ENST00000482315.1:n.494A>G
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000420674
  ensembl transcript: ENST00000461010
  gene symbol: PPP2R5D
  hgvsc: ENST00000461010.1:c.1005A>G
  hgvsp: ENST00000461010.1:c.1005A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9312
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112640
  ensembl protein: ENSP00000230402
  ensembl transcript: ENST00000230402
  gene symbol: PPP2R5D
  hgvsc: ENST00000230402.6:c.*1004A>G
  variant of: http://identifiers.org/hgnc/9312
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  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: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg441Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.738e0

FS
type: SiteQuality
SIO_000300: 1.125e0

DP
type: SiteQuality
SIO_000300: 2.715232e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 2.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26230
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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: 906
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 4.02e0

DP
type: SiteQuality
SIO_000300: 2.715033e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.297e0

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3744
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26223
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 2.709327e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 2.147e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.816e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.309e0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26223
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4230
bin: 7.75e1
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: 10404
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 6
allele frequency: 8.999550022498874e-5
allele num: 66670
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.75e0

QD
type: SiteQuality
SIO_000300: 1.387e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 2.995e0

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

DP
type: SiteQuality
SIO_000300: 2.707942e6

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26213
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12164
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.335e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

DP
type: SiteQuality
SIO_000300: 2.70565e6

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

GenotypeQuality
all individuals: 11195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.244996967859309e-4
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 66594
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

DP
type: SiteQuality
SIO_000300: 2.718664e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 3613
bin: 7.75e1
variant carriers: 51

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 11195
bin: 6.25e1
variant carriers: 25

GenotypeQuality
all individuals: 1511
bin: 8.75e1
variant carriers: 35

GenotypeQuality
all individuals: 30387
bin: 9.75e1
variant carriers: 20102

GenotypeQuality
all individuals: 3086
bin: 8.25e1
variant carriers: 52

GenotypeQuality
all individuals: 2436
bin: 9.25e1
variant carriers: 83

African
type: Population
allele count: 5953
allele frequency: 5.733962627624735e-1
allele num: 10382
num of homozygotes: 1690

Latino
type: Population
allele count: 2545
allele frequency: 2.205372616984402e-1
allele num: 11540
num of homozygotes: 281

European (Non-Finnish)
type: Population
allele count: 8322
allele frequency: 1.249662131723579e-1
allele num: 66594
num of homozygotes: 508

East Asian
type: Population
allele count: 2273
allele frequency: 2.635056805008115e-1
allele num: 8626
num of homozygotes: 321

South Asian
type: Population
allele count: 3877
allele frequency: 2.351121892055791e-1
allele num: 16490
num of homozygotes: 494

European (Finnish)
type: Population
allele count: 684
allele frequency: 1.035735917625681e-1
allele num: 6604
num of homozygotes: 33

Other
type: Population
allele count: 148
allele frequency: 1.63355408388521e-1
allele num: 906
num of homozygotes: 15

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.718664e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 4557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15926
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3340
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0016509079994e-5
allele num: 66630
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.261512e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.618e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.41e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4558
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5343
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.261227e6

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.512e0

QD
type: SiteQuality
SIO_000300: 1.709e1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
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SIO_000300: 5.86e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
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SIO_000300: -3.223e0

VQSLOD
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FS
type: SiteQuality
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DP
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10326
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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FS
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MQ
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

DP
type: SiteQuality
SIO_000300: 2.245594e6

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: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.543474e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.357e0

QD
type: SiteQuality
SIO_000300: 9.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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: 6562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029843963035904e-5
allele num: 66010
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.407e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

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

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.55848e6

FS
type: SiteQuality
SIO_000300: 3.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 2
allele frequency: 1.945525291828794e-4
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66036
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.111e0

DP
type: SiteQuality
SIO_000300: 1.571085e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.436e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16300
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.026e0

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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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
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.759e1

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

Latino
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele num: 66310
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African
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East Asian
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South Asian
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Other
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Latino
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South Asian
type: Population
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allele frequency: 6.192717364379489e-5
allele num: 16148
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.076e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e0

FS
type: SiteQuality
SIO_000300: 5.369e0

DP
type: SiteQuality
SIO_000300: 1.592096e6

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2461
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.252348152786475e-4
allele num: 15970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64916
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.408e-1

QD
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SIO_000300: 8.06e0

DP
type: SiteQuality
SIO_000300: 1.558798e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.005025125628141e-4
allele num: 9950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.098e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.509219e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 5.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.51e-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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.015228426395939e-4
allele num: 9850
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572772168223711e-5
allele num: 63582
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 1.443199e6

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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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

African
type: Population
allele count: 7
allele frequency: 7.106598984771574e-4
allele num: 9850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.820830298616169e-4
allele num: 10984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.100940517756598e-4
allele num: 63582
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

DP
type: SiteQuality
SIO_000300: 1.443199e6

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
all individuals: 907
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63342
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.162790697674419e-3
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

QD
type: SiteQuality
SIO_000300: 1.479e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.421671e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.529119874640899e-5
allele num: 15316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61896
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.291422552827332e-5
allele num: 60764
num of homozygotes: 0

East Asian
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.803e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.059039461609055e-5
allele num: 65380
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65376
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13584
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 1.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 7.288629737609329e-5
allele num: 13720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65408
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 3.6e-3

VQSLOD
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 1.129e1

MQRankSum
type: SiteQuality
SIO_000300: -1.674e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

DP
type: SiteQuality
SIO_000300: 2.238138e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Finnish)
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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: 10326
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14688
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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DP
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QD
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SIO_000300: 1.504e1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

FS
type: SiteQuality
SIO_000300: 4.314e0

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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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519064256418047e-5
allele num: 65830
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
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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: 870
num of homozygotes: 0

QD
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SIO_000300: 1.297e1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.361e0

BaseQRankSum
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SIO_000300: -2.121e0

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.279092e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.124e0

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.692e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 3.576e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10021
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 8648
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

South Asian
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allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 2.322265e6

QD
type: SiteQuality
SIO_000300: 1.474e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 2.578e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.997e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 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: 906
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.376e1

DP
type: SiteQuality
SIO_000300: 2.324929e6

FS
type: SiteQuality
SIO_000300: 6.982e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele count: 0
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.895e1

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

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

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
type: SiteQuality
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.984e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
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European (Finnish)
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Other
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East Asian
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African
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InbreedingCoeff
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MQRankSum
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QD
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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Other
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European (Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Other
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Latino
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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European (Finnish)
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Other
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InbreedingCoeff
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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South Asian
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DP
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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FS
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DP
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VQSLOD
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QD
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MQ
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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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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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FS
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QD
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DP
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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African
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Latino
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South Asian
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DP
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QD
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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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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East Asian
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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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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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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BaseQRankSum
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QD
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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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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South Asian
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European (Non-Finnish)
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African
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Other
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East Asian
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DP
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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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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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQ
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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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Other
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Latino
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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MQ
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FS
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InbreedingCoeff
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QD
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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DP
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MQRankSum
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MQ
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VQSLOD
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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FS
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InbreedingCoeff
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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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VQSLOD
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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South Asian
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Other
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FS
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.278108783394196e-2
allele num: 10406
num of homozygotes: 0

Latino
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allele frequency: 7.77336327517706e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

South Asian
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East Asian
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Other
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

QD
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.781e0

DP
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MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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num of homozygotes: 0

Other
type: Population
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FS
type: SiteQuality
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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Other
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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Other
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ClippingRankSum
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FS
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MQRankSum
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DP
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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East Asian
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FS
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.334499e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.877e0

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30259
bin: 9.75e1
variant carriers: 577

African
type: Population
allele count: 17
allele frequency: 1.633672881030175e-3
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 54
allele frequency: 4.664017965106236e-3
allele num: 11578
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 19
allele frequency: 2.872694284850318e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 471
allele frequency: 7.057871549734768e-3
allele num: 66734
num of homozygotes: 2

Other
type: Population
allele count: 9
allele frequency: 9.911894273127754e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.4e1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 2.407502e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3866
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3914
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.267e1

FS
type: SiteQuality
SIO_000300: 8.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

DP
type: SiteQuality
SIO_000300: 2.353252e6

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3996
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3866
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30157
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.353288e6

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.140000000000001e0

QD
type: SiteQuality
SIO_000300: 1.561e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

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

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10154
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

FS
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.065e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 2.353194e6

GenotypeQuality
all individuals: 30156
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 7.25e1
variant carriers: 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: 908
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: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
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: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.489e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 2.353199e6

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 1.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3866
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30160
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3915
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.353534e6

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1