http://identifiers.org/exac.variant/5-146080757-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080757
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080757
    reference: chr 5
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50470T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-52T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-52T>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

5-146080758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080758
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080758
    reference: chr 5
allele count: 5
allele frequency: 4.123847384655988e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50471C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-53C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-53C>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

5-146080761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080761
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080761
    reference: chr 5
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50474A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-56A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-56A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

5-146080764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080764
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080764
    reference: chr 5
allele count: 9
allele frequency: 7.430524595036409e-5
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50477T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-59T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-59T>C
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-146080768-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080768
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080768
    reference: chr 5
allele count: 5
allele frequency: 4.131002346409333e-5
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50481A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-63A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-63A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

5-146080770-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080770
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080770
    reference: chr 5
allele count: 5
allele frequency: 4.132299707433181e-5
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50483C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-65C>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-65C>A
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

5-146080774-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080774
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080774
    reference: chr 5
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50487A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-69A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-69A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

5-146080778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080778
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080778
    reference: chr 5
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-73A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-73A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

5-146080782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080782
    reference: chr 5
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50495A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-77A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-77A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-146080782-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080781
    reference: chr 5
allele count: 67
allele frequency: 5.553069106701809e-4
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50496delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-78delC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-78delC
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: TG
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-146080788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080788
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080788
    reference: chr 5
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50501A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-83A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-83A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

5-146080813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080813
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080813
    reference: chr 5
allele count: 6
allele frequency: 5.008848966507497e-5
allele num: 119788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50526C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-108C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-108C>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-146080817-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080817
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080817
    reference: chr 5
allele count: 1
allele frequency: 8.355614973262032e-6
allele num: 119680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50530A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.38-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-112A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-112A>C
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

5-146080833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146080833
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146080833
    reference: chr 5
allele count: 1
allele frequency: 8.401384548173538e-6
allele num: 119028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*82-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*55-50546C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*21-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.38-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*21-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.363-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.71-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.475-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.71-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.389-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.269-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.71-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*21-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.245-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-128C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.71-128C>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-146236014-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236014
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236014
    reference: chr 5
allele count: 1
allele frequency: 8.463673911571535e-6
allele num: 118152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155309A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+48A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155309A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+48A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155309A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155309A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+48A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155309A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21551A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63233A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+48A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65874A>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

5-146236015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236015
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236015
    reference: chr 5
allele count: 2
allele frequency: 1.692648826148039e-5
allele num: 118158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65873T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+47T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155310T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63232T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155310T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155310T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.37+47T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+47T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+47T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+47T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+47T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21550T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155310T>C
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

5-146236015-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236015
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236015
    reference: chr 5
allele count: 6
allele frequency: 5.077946478444118e-5
allele num: 118158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155310T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.37+47T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+47T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65873T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+47T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63232T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+47T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155310T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155310T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+47T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155310T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21550T>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155310T>A
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

5-146236016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236016
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236016
    reference: chr 5
allele count: 1
allele frequency: 8.470412847922207e-6
allele num: 118058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21549G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+46G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155311G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63231G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.37+46G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21549G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155311G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21549G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21549G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155311G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+46G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21549G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+46G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155311G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21549G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+46G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21549G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155311G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65872G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21549G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

5-146236027-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236027
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236027
    reference: chr 5
allele count: 1
allele frequency: 8.451085119329322e-6
allele num: 118328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155322A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+35A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+35A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155322A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+35A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155322A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155322A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+35A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63220A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+35A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155322A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21538A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21538A>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-146236043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236043
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236043
    reference: chr 5
allele count: 29
allele frequency: 2.437302494453036e-4
allele num: 118984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65845A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155338A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+19A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155338A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155338A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+19A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155338A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+19A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21522A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+19A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21522A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21522A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.37+19A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21522A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63204A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155338A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+19A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21522A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21522A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21522A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

5-146236043-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236043
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236042
    reference: chr 5
allele count: 1
allele frequency: 8.404491360182881e-6
allele num: 118984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63203delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155339delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+18delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155339delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155339delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+18delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155339delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+18delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+18delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155339delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21521delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+18delT
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.37+18delT
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: TA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

5-146236055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236055
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236055
    reference: chr 5
allele count: 28
allele frequency: 2.340432645691932e-4
allele num: 119636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155350G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155350G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65833G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63192G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155350G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155350G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21510G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155350G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.*20+7G>A
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

5-146236056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236056
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236056
    reference: chr 5
allele count: 1
allele frequency: 8.352125615969264e-6
allele num: 119730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155351C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+6C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.37+6C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+6C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+6C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63191C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65832C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155351C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155351C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155351C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155351C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21509C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+6C>T
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.*20+6C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

5-146236061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236061
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236061
    reference: chr 5
allele count: 2
allele frequency: 1.66761164659974e-5
allele num: 119932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*20+1G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155356G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*54+1G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.37+1G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*20+1G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*20+1G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.37+1G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21504G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155356G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155356G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65827G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155356G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155356G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.*20+1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

5-146236064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236064
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236064
    reference: chr 5
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155359A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.35A>G
  hgvsp: ENSP00000377932.2:p.Lys12Arg
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155359A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155359A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21501A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21501A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21501A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21501A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21501A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.35A>G
  hgvsp: ENSP00000431320.1:p.Lys12Arg
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21501A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63183A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155359A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155359A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21501A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys12Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-146236073-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236073
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236073
    reference: chr 5
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65815A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155368A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155368A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63174A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.26A>G
  hgvsp: ENSP00000431320.1:p.Tyr9Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*43A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.26A>G
  hgvsp: ENSP00000377932.2:p.Tyr9Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155368A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21492A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155368A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr9Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-146236076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236076
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236076
    reference: chr 5
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155371C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155371C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.23C>T
  hgvsp: ENSP00000431320.1:p.Thr8Ile
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.23C>T
  hgvsp: ENSP00000377932.2:p.Thr8Ile
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63171C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155371C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155371C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21489C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155371C>T
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr8Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-146236077-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236077
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236077
    reference: chr 5
allele count: 1
allele frequency: 8.310617645103384e-6
allele num: 120328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65811A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155372A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21488A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.22A>T
  hgvsp: ENSP00000431320.1:p.Thr8Ser
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21488A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63170A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155372A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*39A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155372A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21488A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.22A>T
  hgvsp: ENSP00000377932.2:p.Thr8Ser
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21488A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21488A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155372A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155372A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21488A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21488A>T
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr8Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

5-146236078-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236078
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236078
    reference: chr 5
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21487C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*38C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65810C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155373C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21487C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63169C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21487C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155373C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21487C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21487C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.21C>G
  hgvsp: ENSP00000377932.2:p.Asn7Lys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155373C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21487C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.21C>G
  hgvsp: ENSP00000431320.1:p.Asn7Lys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21487C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155373C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155373C>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn7Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-146236084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236084
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236084
    reference: chr 5
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155379T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155379T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.133T>C
  hgvsp: ENSP00000434497.1:p.Ter45ArgextTer6
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.133T>C
  hgvsp: ENSP00000426599.1:p.Ter45ArgextTer6
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21481T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21481T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65804T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21481T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21481T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.133T>C
  hgvsp: ENSP00000433890.1:p.Ter45ArgextTer6
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21481T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63163T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.15T>C
  hgvsp: ENST00000394410.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155379T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21481T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155379T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21481T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*32T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155379T>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21481T>C
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ter45ArgextTer6
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/5-146236090-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236090
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236090
    reference: chr 5
allele count: 2
allele frequency: 1.661267547138467e-5
allele num: 120390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21475T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155385T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.9T>G
  hgvsp: ENSP00000377932.2:p.Tyr3Ter
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21475T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155385T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.9T>G
  hgvsp: ENSP00000431320.1:p.Tyr3Ter
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.127T>G
  hgvsp: ENSP00000434497.1:p.Ser43Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21475T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*26T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155385T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21475T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21475T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.127T>G
  hgvsp: ENSP00000433890.1:p.Ser43Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63157T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155385T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.127T>G
  hgvsp: ENSP00000426599.1:p.Ser43Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155385T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21475T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21475T>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65798T>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr3Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

5-146236108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236108
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236108
    reference: chr 5
allele count: 12
allele frequency: 9.969924062411725e-5
allele num: 120362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.109A>G
  hgvsp: ENSP00000426599.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.109A>G
  hgvsp: ENSP00000433890.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65780A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-10A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155403A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63139A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-10A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155403A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21457A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.109A>G
  hgvsp: ENSP00000434497.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*8A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155403A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155403A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile37Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

5-146236109-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236109
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236109
    reference: chr 5
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-11A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-11A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.108A>G
  hgvsp: ENST00000512639.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155404A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.*7A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155404A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155404A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155404A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155404A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.108A>G
  hgvsp: ENST00000528601.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63138A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21456A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65779A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro36Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

5-146236114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236114
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236114
    reference: chr 5
allele count: 60
allele frequency: 4.986702127659574e-4
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-16G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155409G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155409G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.103G>A
  hgvsp: ENSP00000433890.1:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155409G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.103G>A
  hgvsp: ENSP00000426599.1:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63133G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-16G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65774G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.103G>A
  hgvsp: ENSP00000434497.1:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21451G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155409G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21451G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly35Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

5-146236119-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236117
    reference: chr 5
allele count: 4
allele frequency: 3.326403326403326e-5
allele num: 120250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21444_388+21445delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155416_*28-155415delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.96_97delGA
  hgvsp: ENSP00000426599.1:p.Asn33Ter
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155416_11-155415delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21444_70+21445delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-23_-22delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.96_97delGA
  hgvsp: ENSP00000433890.1:p.Asn33Ter
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21444_244+21445delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21444_70+21445delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.100_101delGA
  hgvsp: ENSP00000429184.1:p.Glu34IlefsTer5
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65767_198+65768delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21444_474+21445delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155416_*19-155415delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155416_89-155415delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-23_-22delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.96_97delGA
  hgvsp: ENSP00000434497.1:p.Asn33Ter
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21444_268+21445delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63126_362+63127delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155416_80-155415delGA
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21444_70+21445delGA
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn33Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: TTC
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

5-146236136-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236137
    reference: chr 5
allele count: 3
allele frequency: 2.508235372807384e-5
allele num: 119606
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155432dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.80dupG
  hgvsp: ENSP00000433890.1:p.Glu28ArgfsTer7
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21428dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-39dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21428dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21428dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21428dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.84dupG
  hgvsp: ENSP00000429184.1:p.Arg29GlufsTer11
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.80dupG
  hgvsp: ENSP00000434497.1:p.Glu28ArgfsTer7
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21428dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21428dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155432dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21428dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.80dupG
  hgvsp: ENSP00000426599.1:p.Glu28ArgfsTer7
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155432dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-39dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63110dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155432dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155432dupG
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65751dupG
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu28ArgfsTer7
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: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

5-146236137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236137
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236137
    reference: chr 5
allele count: 1
allele frequency: 8.361483661660925e-6
allele num: 119596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.80G>A
  hgvsp: ENSP00000426599.1:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155432G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-39G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.80G>A
  hgvsp: ENSP00000434497.1:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21428G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155432G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63110G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155432G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21428G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21428G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.80G>A
  hgvsp: ENSP00000433890.1:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21428G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21428G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21428G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-39G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65751G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.84G>A
  hgvsp: ENST00000522831.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21428G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155432G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21428G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly27Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

5-146236140-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236140
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236140
    reference: chr 5
allele count: 1
allele frequency: 8.376893177858196e-6
allele num: 119376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155435A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-42A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21425A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65748A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21425A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.81A>C
  hgvsp: ENSP00000429184.1:p.Gln27His
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-42A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21425A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21425A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.77A>C
  hgvsp: ENSP00000434497.1:p.Lys26Thr
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.77A>C
  hgvsp: ENSP00000426599.1:p.Lys26Thr
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.77A>C
  hgvsp: ENSP00000433890.1:p.Lys26Thr
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155435A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21425A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155435A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155435A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155435A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21425A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21425A>C
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63107A>C
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys26Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

5-146236153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236153
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236153
    reference: chr 5
allele count: 2
allele frequency: 1.688419133165617e-5
allele num: 118454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155448G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155448G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.71-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.71-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63094G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.71-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155448G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155448G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21412G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65735G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.71-7G>A
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

5-146236157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236157
    reference: chr 5
allele count: 1
allele frequency: 8.464963516007247e-6
allele num: 118134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21408G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-11G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65731G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.71-11G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-11G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.71-11G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155452G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21408G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-11G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21408G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21408G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.71-11G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155452G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63090G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155452G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21408G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155452G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21408G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21408G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155452G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

5-146236159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236159
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236159
    reference: chr 5
allele count: 1
allele frequency: 8.470269354565475e-6
allele num: 118060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21406A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155454A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.71-13A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21406A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21406A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21406A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21406A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-13A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155454A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21406A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63088A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65729A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155454A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.71-13A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-13A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.71-13A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-13A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155454A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21406A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21406A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-146236176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236176
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236176
    reference: chr 5
allele count: 10
allele frequency: 8.555783709787816e-5
allele num: 116880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155471G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.71-30G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-30G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155471G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.71-30G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155471G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63071G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.71-30G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155471G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155471G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21389G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-30G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-146236184-G-GGTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236184
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236187
    reference: chr 5
allele count: 1
allele frequency: 8.625894936599672e-6
allele num: 115930
alternate allele: GGTA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155482_*28-155480dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-41_-48-39dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.71-41_71-39dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155482_11-155480dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-41_-48-39dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.71-41_71-39dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155482_89-155480dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.71-41_71-39dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155482_*19-155480dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21378_244+21380dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21378_388+21380dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63060_362+63062dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21378_*81+21380dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155482_80-155480dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21378_474+21380dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21378_268+21380dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21378_70+21380dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21378_70+21380dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-41_75-39dupTAC
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65701_198+65703dupTAC
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-146236188-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146236188
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146236188
    reference: chr 5
allele count: 1
allele frequency: 8.664460117490079e-6
allele num: 115414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*28-155483C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-155483C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*19-155483C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-155483C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.71-42C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.11-155483C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-42C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.71-42C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+21377C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+63059C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-42C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.71-42C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+65700C>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-146257514-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257514
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257514
    reference: chr 5
allele count: 2
allele frequency: 1.778663156771371e-5
allele num: 112444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176809G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176809G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.70+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176647G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21368G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41733G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21368G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21368G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+51G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157218G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162766G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44374G>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-146257524-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257524
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257524
    reference: chr 5
allele count: 1
allele frequency: 8.883992821733801e-6
allele num: 112562
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176819G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157208G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21378G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176637G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176819G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21378G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44364G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41723G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162756G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+41G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.70+41G>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-146257525-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257525
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257525
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 113000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157207C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21379C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176636C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41722C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176820C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21379C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176820C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21379C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.70+40C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44363C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+40C>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/5-146257527-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257527
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257527
    reference: chr 5
allele count: 1
allele frequency: 8.830022075055188e-6
allele num: 113250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176822G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21381G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176822G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.70+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41720G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157205G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+38G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176634G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21381G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162753G>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+38G>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-146257532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257532
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257532
    reference: chr 5
allele count: 1
allele frequency: 8.78981787497363e-6
allele num: 113768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176827G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176629G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41715G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.70+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21386G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44356G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+33G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176827G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162748G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21386G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+33G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

5-146257542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257542
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257542
    reference: chr 5
allele count: 1
allele frequency: 8.702008423544154e-6
allele num: 114916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41705C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176837C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176619C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21396C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176837C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21396C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.70+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157190C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162738C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+23C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+23C>T
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-146257547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257547
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257547
    reference: chr 5
allele count: 9
allele frequency: 8.025109676498912e-5
allele num: 112148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21401G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162733G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176614G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157185G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176842G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.70+18G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44341G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176842G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21401G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41700G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+18G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

5-146257549-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257549
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257549
    reference: chr 5
allele count: 1
allele frequency: 8.847365254627173e-6
allele num: 113028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.70+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.70+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162731C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157183C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21403C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.244+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41698C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.70+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*81+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.70+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.70+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.70+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21403C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.268+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176844C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44339C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176844C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.474+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.388+16C>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176612C>G
  variant of: http://identifiers.org/hgnc/9305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

5-146257572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257572
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257572
    reference: chr 5
allele count: 1
allele frequency: 8.480469478790345e-6
allele num: 117918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.237G>A
  hgvsp: ENST00000394409.3:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*74G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.63G>A
  hgvsp: ENST00000532154.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157160G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.63G>A
  hgvsp: ENST00000512639.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21426G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.63G>A
  hgvsp: ENST00000394413.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.63G>A
  hgvsp: ENST00000394411.4:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44316G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.63G>A
  hgvsp: ENST00000528601.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176867G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.63G>A
  hgvsp: ENST00000453001.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.381G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176867G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41675G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.261G>A
  hgvsp: ENST00000394414.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21426G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21426G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176589G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162708G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala21Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

5-146257580-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257580
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257580
    reference: chr 5
allele count: 1
allele frequency: 8.371002846140968e-6
allele num: 119460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.459A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.55A>T
  hgvsp: ENSP00000434497.1:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176875A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.55A>T
  hgvsp: ENSP00000377933.3:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.229A>T
  hgvsp: ENSP00000377931.3:p.Ser77Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176875A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157152A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*66A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.55A>T
  hgvsp: ENSP00000377935.2:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.55A>T
  hgvsp: ENSP00000349283.3:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21434A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.55A>T
  hgvsp: ENSP00000433890.1:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.55A>T
  hgvsp: ENSP00000398779.1:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.55A>T
  hgvsp: ENSP00000426599.1:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21434A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.373A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44308A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.253A>T
  hgvsp: ENSP00000377936.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41667A>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176581A>T
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser19Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

5-146257587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257587
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257587
    reference: chr 5
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.246C>T
  hgvsp: ENST00000394414.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157145C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176882C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21441C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.366C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41660C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.222C>T
  hgvsp: ENST00000394409.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.48C>T
  hgvsp: ENST00000394413.3:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.48C>T
  hgvsp: ENST00000356826.3:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.48C>T
  hgvsp: ENST00000532154.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.452C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.48C>T
  hgvsp: ENST00000512639.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.48C>T
  hgvsp: ENST00000394411.4:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.48C>T
  hgvsp: ENST00000528601.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.48C>T
  hgvsp: ENST00000453001.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162693C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21441C>T
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176882C>T
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg16Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

5-146257598-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257598
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257598
    reference: chr 5
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.37A>G
  hgvsp: ENSP00000426599.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.355A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.37A>G
  hgvsp: ENSP00000377935.2:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41649A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.211A>G
  hgvsp: ENSP00000377931.3:p.Ser71Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162682A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.235A>G
  hgvsp: ENSP00000377936.1:p.Ser79Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176893A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21452A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.37A>G
  hgvsp: ENSP00000398779.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.37A>G
  hgvsp: ENSP00000377933.3:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.37A>G
  hgvsp: ENSP00000433890.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44290A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.37A>G
  hgvsp: ENSP00000349283.3:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176563A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.37A>G
  hgvsp: ENSP00000434497.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176893A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21452A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21452A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser13Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-146257616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257616
    reference: chr 5
allele count: 2
allele frequency: 1.654478673769895e-5
allele num: 120884
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176911A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.19A>G
  hgvsp: ENSP00000349283.3:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.19A>G
  hgvsp: ENSP00000426599.1:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.19A>G
  hgvsp: ENSP00000433890.1:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.19A>G
  hgvsp: ENSP00000377935.2:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176911A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.19A>G
  hgvsp: ENSP00000434497.1:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.337A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.193A>G
  hgvsp: ENSP00000377931.3:p.Thr65Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157116A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41631A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162664A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21470A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.19A>G
  hgvsp: ENSP00000398779.1:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.423A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.19A>G
  hgvsp: ENSP00000377933.3:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44272A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.217A>G
  hgvsp: ENSP00000377936.1:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21470A>G
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21470A>G
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr7Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

5-146257626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257626
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257626
    reference: chr 5
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.9G>A
  hgvsp: ENST00000453001.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.9G>A
  hgvsp: ENST00000394413.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.9G>A
  hgvsp: ENST00000394411.4:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.327G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.183G>A
  hgvsp: ENST00000394409.3:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.207G>A
  hgvsp: ENST00000394414.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44262G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.9G>A
  hgvsp: ENST00000512639.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.9G>A
  hgvsp: ENST00000356826.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176921G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000433890
  ensembl transcript: ENST00000528601
  gene symbol: PPP2R2B
  hgvsc: ENST00000528601.1:c.9G>A
  hgvsp: ENST00000528601.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21480G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000434497
  ensembl transcript: ENST00000532154
  gene symbol: PPP2R2B
  hgvsc: ENST00000532154.1:c.9G>A
  hgvsp: ENST00000532154.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.413G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41621G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162654G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176535G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176921G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu3Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-146257641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146257641
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 146257641
    reference: chr 5
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377935
  ensembl transcript: ENST00000394413
  gene symbol: PPP2R2B
  hgvsc: ENST00000394413.3:c.-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377931
  ensembl transcript: ENST00000394409
  gene symbol: PPP2R2B
  hgvsc: ENST00000394409.3:c.168G>A
  hgvsp: ENST00000394409.3:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000398779
  ensembl transcript: ENST00000453001
  gene symbol: PPP2R2B
  hgvsc: ENST00000453001.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000509721
  gene symbol: PPP2R2B
  hgvsc: ENST00000509721.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000425413
  ensembl transcript: ENST00000504565
  gene symbol: PPP2R2B
  hgvsc: ENST00000504565.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377932
  ensembl transcript: ENST00000394410
  gene symbol: PPP2R2B
  hgvsc: ENST00000394410.2:c.-48-21495G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000336591
  ensembl transcript: ENST00000336640
  gene symbol: PPP2R2B
  hgvsc: ENST00000336640.6:c.80-176936G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000530902
  gene symbol: PPP2R2B
  hgvsc: ENST00000530902.1:n.312G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000349283
  ensembl transcript: ENST00000356826
  gene symbol: PPP2R2B
  hgvsc: ENST00000356826.3:c.-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000431320
  ensembl transcript: ENST00000508545
  gene symbol: PPP2R2B
  hgvsc: ENST00000508545.2:c.-48-21495G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000429184
  ensembl transcript: ENST00000522831
  gene symbol: PPP2R2B
  hgvsc: ENST00000522831.1:c.75-21495G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421224
  ensembl transcript: ENST00000508267
  gene symbol: PPP2R2B
  hgvsc: ENST00000508267.1:c.10+157091G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000426599
  ensembl transcript: ENST00000512639
  gene symbol: PPP2R2B
  hgvsc: ENST00000512639.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377933
  ensembl transcript: ENST00000394411
  gene symbol: PPP2R2B
  hgvsc: ENST00000394411.4:c.-7G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421577
  ensembl transcript: ENST00000515880
  gene symbol: PPP2R2B
  hgvsc: ENST00000515880.1:c.*27+176520G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000377936
  ensembl transcript: ENST00000394414
  gene symbol: PPP2R2B
  hgvsc: ENST00000394414.1:c.192G>A
  hgvsp: ENST00000394414.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000520231
  gene symbol: PPP2R2B
  hgvsc: ENST00000520231.1:n.198+44247G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000421396
  ensembl transcript: ENST00000504198
  gene symbol: PPP2R2B
  hgvsc: ENST00000504198.1:c.89-176936G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl transcript: ENST00000502876
  gene symbol: PPP2R2B
  hgvsc: ENST00000502876.1:n.362+41606G>A
  variant of: http://identifiers.org/hgnc/9305
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156475
  ensembl protein: ENSP00000424409
  ensembl transcript: ENST00000512011
  gene symbol: PPP2R2B
  hgvsc: ENST00000512011.1:c.*18+162639G>A
  variant of: http://identifiers.org/hgnc/9305
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu64Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.38-52T>G
variant of: http://identifiers.org/hgnc/9305

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

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3494
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2464
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2052
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1515
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5254
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
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: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.69e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 7.94091e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: -3.282e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000349283
ensembl transcript: ENST00000356826
gene symbol: PPP2R2B
hgvsc: ENST00000356826.3:c.71-53C>T
variant of: http://identifiers.org/hgnc/9305

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

GenotypeDepth
all individuals: 406
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2051
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47569
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2462
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3496
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51615
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5257
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998440405494571e-5
allele num: 66684
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.784e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 7.940791e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.512e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000425413
ensembl transcript: ENST00000504565
gene symbol: PPP2R2B
hgvsc: ENST00000504565.1:c.*82-56A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2025
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 740
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3442
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2448
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.938314e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.625e1

VQSLOD
type: SiteQuality
SIO_000300: -2.442e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000425413
ensembl transcript: ENST00000504565
gene symbol: PPP2R2B
hgvsc: ENST00000504565.1:c.*82-59T>C
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2447
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2007
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3424
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47569
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51614
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 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: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350580749722381e-4
allele num: 66638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.439e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 7.937504e6

FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000426599
ensembl transcript: ENST00000512639
gene symbol: PPP2R2B
hgvsc: ENST00000512639.1:c.*21-63A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 1986
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2441
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 733
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3383
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47569
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 234
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51611
bin: 9.75e1
variant carriers: 5

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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: 10232
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.505253677574302e-5
allele num: 66620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e0

DP
type: SiteQuality
SIO_000300: 7.935468e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421577
ensembl transcript: ENST00000515880
gene symbol: PPP2R2B
hgvsc: ENST00000515880.1:c.*28-65C>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2438
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1976
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3366
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 47569
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51611
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5063
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.892367906066536e-4
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.205e1

DP
type: SiteQuality
SIO_000300: 7.934502e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.135e0

FS
type: SiteQuality
SIO_000300: 2.604e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000398779
ensembl transcript: ENST00000453001
gene symbol: PPP2R2B
hgvsc: ENST00000453001.1:c.71-69A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 245
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3298
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1946
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2390
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 730
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47568
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.931911e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.816e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e0

FS
type: SiteQuality
SIO_000300: 6.343e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000429184
ensembl transcript: ENST00000522831
gene symbol: PPP2R2B
hgvsc: ENST00000522831.1:c.*55-50491A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47568
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2351
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3181
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1885
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 716
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4736
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 7.927611e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

FS
type: SiteQuality
SIO_000300: 1.648e0

VQSLOD
type: SiteQuality
SIO_000300: -9.152e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.21e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.71-77A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2358
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3161
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1874
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47568
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51613
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 1.134e0

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.926806e6

MQ
type: SiteQuality
SIO_000300: 6.014e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.008e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421396
ensembl transcript: ENST00000504198
gene symbol: PPP2R2B
hgvsc: ENST00000504198.1:c.89-78delC
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 483
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1874
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3161
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2358
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47568
bin: 9.75e1
variant carriers: 65

GenotypeDepth
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4762
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51613
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 66
allele frequency: 5.718246404435973e-3
allele num: 11542
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 6.014e1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.008e0

QD
type: SiteQuality
SIO_000300: 1.424e1

DP
type: SiteQuality
SIO_000300: 7.926806e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377931
ensembl transcript: ENST00000394409
gene symbol: PPP2R2B
hgvsc: ENST00000394409.3:c.245-83A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2313
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1801
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3012
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47561
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 636
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4523
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e0

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

DP
type: SiteQuality
SIO_000300: 7.917004e6

QD
type: SiteQuality
SIO_000300: 1.472e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377931
ensembl transcript: ENST00000394409
gene symbol: PPP2R2B
hgvsc: ENST00000394409.3:c.245-108C>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 545
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2478
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2132
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1486
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 998
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47561
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51607
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.08127743302558e-5
allele num: 66070
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.24e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.242e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 7.897761e6

FS
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.38-112A>C
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 47561
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 591
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1433
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2054
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 811
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.175640724194686e-4
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e0

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 7.894181e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.273e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.38-128C>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1066
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1293
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 721
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2209
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47561
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 877
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523832744118006e-5
allele num: 65624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 2.572e0

DP
type: SiteQuality
SIO_000300: 7.887907e6

MQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.42e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.783e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.37+48A>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000426599
ensembl transcript: ENST00000512639
gene symbol: PPP2R2B
hgvsc: ENST00000512639.1:c.*20+48A>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 1434
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14710
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1147
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5091
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16270
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9079
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5665
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536759282026063e-5
allele num: 65072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.717000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.713826e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+21550T>C
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000424409
ensembl transcript: ENST00000512011
gene symbol: PPP2R2B
hgvsc: ENST00000512011.1:c.*19-155310T>C
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 1434
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14778
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5069
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16867
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5679
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8424
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 276
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6242
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23281
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.06782464846981e-4
allele num: 9672
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 2.799e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 1.717122e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.321e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000433890
ensembl transcript: ENST00000528601
gene symbol: PPP2R2B
hgvsc: ENST00000528601.1:c.*20+47T>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21550T>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16867
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14778
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 5679
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5069
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1434
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8424
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6242
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2026
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.796622097114708e-5
allele num: 11368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.683796410130317e-5
allele num: 65072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 2.799e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.717122e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.37+46G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21549G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5728
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5044
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14822
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17480
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 897
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1145
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2498
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1434
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7743
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2941
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 745
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24098
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6234
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5908
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537704514700455e-5
allele num: 65032
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

DP
type: SiteQuality
SIO_000300: 1.720843e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.37+35A>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+65861A>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2499
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1115
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5875
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2787
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15595
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3864
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 899
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1434
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22755
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6227
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30152
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

QD
type: SiteQuality
SIO_000300: 1.574e1

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 3.118e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

DP
type: SiteQuality
SIO_000300: 1.760579e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+21522A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.70+21522A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 6128
bin: 3.25e1
variant carriers: 6

GenotypeDepth
all individuals: 791
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 373
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 17106
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1628
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1440
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 853
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2506
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25489
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 100
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6253
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 970
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35083
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.626510243389949e-4
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.963052159863427e-4
allele num: 65606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 1.543e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

DP
type: SiteQuality
SIO_000300: 1.809386e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377933
ensembl transcript: ENST00000394411
gene symbol: PPP2R2B
hgvsc: ENST00000394411.4:c.70+21521delT
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+65844delT
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 791
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 853
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1628
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25489
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2506
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6128
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17106
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.145526057030482e-5
allele num: 16272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

DP
type: SiteQuality
SIO_000300: 1.809386e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 1.543e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000398779
ensembl transcript: ENST00000453001
gene symbol: PPP2R2B
hgvsc: ENST00000453001.1:c.70+21510G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.37+7G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 6246
bin: 3.25e1
variant carriers: 7

GenotypeDepth
all individuals: 17621
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1443
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 513
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 906
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2534
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26817
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 213
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37491
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6255
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.6168876482903e-4
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.785699142917714e-4
allele num: 66038
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 1.066e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

DP
type: SiteQuality
SIO_000300: 1.832364e6

FS
type: SiteQuality
SIO_000300: 1.406e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000434497
ensembl transcript: ENST00000532154
gene symbol: PPP2R2B
hgvsc: ENST00000532154.1:c.*20+6C>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377936
ensembl transcript: ENST00000394414
gene symbol: PPP2R2B
hgvsc: ENST00000394414.1:c.268+21509C>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 502
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1447
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6238
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26860
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17723
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2528
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.833776e6

VQSLOD
type: SiteQuality
SIO_000300: -1.999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 1.1949e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.736e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000502876
gene symbol: PPP2R2B
hgvsc: ENST00000502876.1:n.362+63186G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377933
ensembl transcript: ENST00000394411
gene symbol: PPP2R2B
hgvsc: ENST00000394411.4:c.70+21504G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 2520
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1443
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17841
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27059
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6241
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

DP
type: SiteQuality
SIO_000300: 1.837348e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.70+21501A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+65824A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21501A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27108
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1442
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6251
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2517
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17907
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38188
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 413
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.839162e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000349283
ensembl transcript: ENST00000356826
gene symbol: PPP2R2B
hgvsc: ENST00000356826.3:c.70+21492A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421224
ensembl transcript: ENST00000508267
gene symbol: PPP2R2B
hgvsc: ENST00000508267.1:c.11-155368A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6242
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27295
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18043
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 901
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2515
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1443
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6523
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.849e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.719e0

DP
type: SiteQuality
SIO_000300: 1.843171e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -3.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 5.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000398779
ensembl transcript: ENST00000453001
gene symbol: PPP2R2B
hgvsc: ENST00000453001.1:c.70+21489C>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+65812C>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1441
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6253
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2514
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18063
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27310
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38614
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6232
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -9.751e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

DP
type: SiteQuality
SIO_000300: 1.844e6

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21488A>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377936
ensembl transcript: ENST00000394414
gene symbol: PPP2R2B
hgvsc: ENST00000394414.1:c.268+21488A>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6246
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27287
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2517
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18085
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1441
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 763
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.022e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

DP
type: SiteQuality
SIO_000300: 1.84409e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 9.18e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21487C>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+21487C>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6246
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27289
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18093
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1442
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2518
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 9.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 1.844316e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+21481T>C
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.15T>C
hgvsp: ENST00000508545.2:c.15T>C(p.%3D)
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6256
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27263
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2515
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

FS
type: SiteQuality
SIO_000300: 3.241e0

DP
type: SiteQuality
SIO_000300: 1.844882e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21475T>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377933
ensembl transcript: ENST00000394411
gene symbol: PPP2R2B
hgvsc: ENST00000394411.4:c.70+21475T>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2515
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27234
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1441
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6256
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18179
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2270
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6233
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005891547432969e-5
allele num: 66536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.189e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 1.84543e6

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.316e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000425413
ensembl transcript: ENST00000504565
gene symbol: PPP2R2B
hgvsc: ENST00000504565.1:c.*81+21457A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421396
ensembl transcript: ENST00000504198
gene symbol: PPP2R2B
hgvsc: ENST00000504198.1:c.89-155403A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1551
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 189
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 6275
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 572
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2520
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27057
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18262
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 903
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6241
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052473312283867e-4
allele num: 66510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.575757575757576e-4
allele num: 6600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.845817e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.4e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000398779
ensembl transcript: ENST00000453001
gene symbol: PPP2R2B
hgvsc: ENST00000453001.1:c.70+21456A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000434497
ensembl transcript: ENST00000532154
gene symbol: PPP2R2B
hgvsc: ENST00000532154.1:c.108A>G
hgvsp: ENST00000532154.1:c.108A>G(p.%3D)
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6282
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2517
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27019
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18274
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38496
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1753
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.845296e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: -1.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000429184
ensembl transcript: ENST00000522831
gene symbol: PPP2R2B
hgvsc: ENST00000522831.1:c.*2G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421396
ensembl transcript: ENST00000504198
gene symbol: PPP2R2B
hgvsc: ENST00000504198.1:c.89-155409G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 6.25e1
variant carriers: 5

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 906
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 208
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1442
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 5.75e1
variant carriers: 6

GenotypeDepth
all individuals: 204
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26880
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 6280
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1551
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 110
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 582
bin: 5.25e1
variant carriers: 12

GenotypeDepth
all individuals: 131
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18308
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 2524
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6284
bin: 9.75e1
variant carriers: 60

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38453
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 60
allele frequency: 6.968641114982578e-3
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.649e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.719e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.846353e6

QD
type: SiteQuality
SIO_000300: 7.83e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000425413
ensembl transcript: ENST00000504565
gene symbol: PPP2R2B
hgvsc: ENST00000504565.1:c.*81+21444_*81+21445delGA
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000349283
ensembl transcript: ENST00000356826
gene symbol: PPP2R2B
hgvsc: ENST00000356826.3:c.70+21444_70+21445delGA
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 242
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26706
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18353
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 182
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6284
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2511
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6226
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1749
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515760002408406e-5
allele num: 66434
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.054e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.843536e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.709e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377931
ensembl transcript: ENST00000394409
gene symbol: PPP2R2B
hgvsc: ENST00000394409.3:c.244+21428dupG
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.70+21428dupG
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2530
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6322
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18271
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 903
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25044
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1255
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6223
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.085150143973673e-4
allele num: 9724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.82811e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.195e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.361e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000398779
ensembl transcript: ENST00000453001
gene symbol: PPP2R2B
hgvsc: ENST00000453001.1:c.70+21428G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421396
ensembl transcript: ENST00000504198
gene symbol: PPP2R2B
hgvsc: ENST00000504198.1:c.89-155432G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18281
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25035
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6320
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1258
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2527
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6221
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515243348081702e-5
allele num: 65996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.397e0

FS
type: SiteQuality
SIO_000300: 3.873e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

DP
type: SiteQuality
SIO_000300: 1.828092e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000349283
ensembl transcript: ENST00000356826
gene symbol: PPP2R2B
hgvsc: ENST00000356826.3:c.70+21425A>C
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21425A>C
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1592
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 637
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6323
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18190
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2523
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 756
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.822095e6

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421577
ensembl transcript: ENST00000515880
gene symbol: PPP2R2B
hgvsc: ENST00000515880.1:c.*28-155448G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.70+21412G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 904
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2509
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17747
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1337
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22542
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3101
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6221
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1041
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 352
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6216
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.066732090284593e-5
allele num: 65216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

FS
type: SiteQuality
SIO_000300: 3.682e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.807e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e0

QD
type: SiteQuality
SIO_000300: 1.142e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 1.795311e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000530902
gene symbol: PPP2R2B
hgvsc: ENST00000530902.1:n.388+21408G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+21408G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 17380
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6180
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21178
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4215
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1444
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1830
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2504
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1212
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6217
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 954
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538982424820709e-5
allele num: 64978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.77709e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.15e0

QD
type: SiteQuality
SIO_000300: 1.702e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421577
ensembl transcript: ENST00000515880
gene symbol: PPP2R2B
hgvsc: ENST00000515880.1:c.*28-155454A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+21406A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 20970
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1939
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1246
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17258
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2491
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6148
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.532801961986511e-4
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.095e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 9.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

DP
type: SiteQuality
SIO_000300: 1.772408e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.-48-30G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+65712G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 15029
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1426
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1664
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14380
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8435
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2460
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5652
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6826
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 899
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1011
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4906
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6212
bin: 9.75e1
variant carriers: 10

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.558554907889405e-4
allele num: 64162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

DP
type: SiteQuality
SIO_000300: 1.681685e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.359e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000398779
ensembl transcript: ENST00000453001
gene symbol: PPP2R2B
hgvsc: ENST00000453001.1:c.70+21378_70+21380dupTAC
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.70+21378_70+21380dupTAC
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2430
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1416
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8867
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11847
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5176
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1954
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12005
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12112
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4901
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2666
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.042535446205171e-4
allele num: 9592
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.628618e6

QD
type: SiteQuality
SIO_000300: 1.569e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.70+21377C>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.-48-42C>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10468
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1415
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8772
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4972
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12725
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12853
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2181
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2414
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5339
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3858
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.067827348567283e-5
allele num: 11028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.612189e6

QD
type: SiteQuality
SIO_000300: 1.674e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.104e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+51G>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000398779
ensembl transcript: ENST00000453001
gene symbol: PPP2R2B
hgvsc: ENST00000453001.1:c.70+51G>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1466
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7107
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3644
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5129
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 536
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11343
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 61
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15367
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4898
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574406448768814e-5
allele num: 63516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178967224711153e-4
allele num: 8482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.332974e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.062e0

QD
type: SiteQuality
SIO_000300: 1.022e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.413e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.474+41G>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.-48-21378G>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 15728
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1473
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6691
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5448
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20507
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3584
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5430
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5300
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.917424647761727e-5
allele num: 11214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12342
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.555e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.006e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.373828e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377935
ensembl transcript: ENST00000394413
gene symbol: PPP2R2B
hgvsc: ENST00000394413.3:c.70+40C>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000424409
ensembl transcript: ENST00000512011
gene symbol: PPP2R2B
hgvsc: ENST00000512011.1:c.*18+162755C>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21311
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6463
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4497
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1479
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16059
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5506
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3571
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4416
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32187
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63762
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.383918e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
type: SiteQuality
SIO_000300: -7.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+44361G>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.-48-21381G>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6020
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3539
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1476
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22468
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16425
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5563
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63900
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008064516129032e-4
allele num: 9920
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.062e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.397287e6

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421224
ensembl transcript: ENST00000508267
gene symbol: PPP2R2B
hgvsc: ENST00000508267.1:c.10+157200G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.-48-21386G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23787
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3395
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5975
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2008
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17558
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4818
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 320
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.862105636299185e-5
allele num: 11284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

DP
type: SiteQuality
SIO_000300: 1.43174e6

QD
type: SiteQuality
SIO_000300: 1.423e1

FS
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+44346C>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000429184
ensembl transcript: ENST00000522831
gene symbol: PPP2R2B
hgvsc: ENST00000522831.1:c.75-21396C>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 6642
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3687
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2960
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1618
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1490
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23424
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19378
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5895
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.496251874062968e-5
allele num: 13340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.664e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-2

DP
type: SiteQuality
SIO_000300: 1.467907e6

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.847e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.281e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.307e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.-48-21401G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377931
ensembl transcript: ENST00000394409
gene symbol: PPP2R2B
hgvsc: ENST00000394409.3:c.244+18G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5860
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 58
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2197
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16925
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 547
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 275
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5005
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2786
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 170
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4098
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1246
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18759
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 767
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31552
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3131
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 7.183908045977011e-4
allele num: 9744
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.776198934280639e-4
allele num: 11260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13352
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 1.536814e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.-48-21403C>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000426599
ensembl transcript: ENST00000512639
gene symbol: PPP2R2B
hgvsc: ENST00000512639.1:c.70+16C>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17778
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1381
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2808
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5563
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18983
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1925
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4286
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1081
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5678
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1526
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.357e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 1.506421e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.467G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000349283
ensembl transcript: ENST00000356826
gene symbol: PPP2R2B
hgvsc: ENST00000356826.3:c.63G>A
hgvsp: ENST00000356826.3:c.63G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 740
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1377
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1627
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21262
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29927
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.516356053694774e-5
allele num: 15346
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.008e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.441e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.325e0

DP
type: SiteQuality
SIO_000300: 1.467456e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000424409
ensembl transcript: ENST00000512011
gene symbol: PPP2R2B
hgvsc: ENST00000512011.1:c.*18+162700A>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.-48-21434A>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30879
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4882
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21892
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4858
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519572088499878e-5
allele num: 65808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.868e-1

MQ
type: SiteQuality
SIO_000300: 5.569e1

FS
type: SiteQuality
SIO_000300: 3.907e0

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.193e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 1.491175e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.-48-21441C>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000520231
gene symbol: PPP2R2B
hgvsc: ENST00000520231.1:n.198+44301C>T
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421577
ensembl transcript: ENST00000515880
gene symbol: PPP2R2B
hgvsc: ENST00000515880.1:c.*27+176574C>T
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 634
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 737
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4917
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22216
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31111
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.286e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

DP
type: SiteQuality
SIO_000300: 1.500277e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 9.75e0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000156475
ensembl transcript: ENST00000509721
gene symbol: PPP2R2B
hgvsc: ENST00000509721.1:n.441A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000425413
ensembl transcript: ENST00000504565
gene symbol: PPP2R2B
hgvsc: ENST00000504565.1:c.*48A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421224
ensembl transcript: ENST00000508267
gene symbol: PPP2R2B
hgvsc: ENST00000508267.1:c.10+157134A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 736
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22566
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31340
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4967
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53492
bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.141e0

FS
type: SiteQuality
SIO_000300: 8.462999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.613e1

QD
type: SiteQuality
SIO_000300: 8.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.509665e6

MQRankSum
type: SiteQuality
SIO_000300: -1.615e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.26e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421577
ensembl transcript: ENST00000515880
gene symbol: PPP2R2B
hgvsc: ENST00000515880.1:c.*27+176545A>G
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000425413
ensembl transcript: ENST00000504565
gene symbol: PPP2R2B
hgvsc: ENST00000504565.1:c.*30A>G
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31272
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 22705
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4988
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 53588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
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: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 2.683e0

DP
type: SiteQuality
SIO_000300: 1.512055e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000377932
ensembl transcript: ENST00000394410
gene symbol: PPP2R2B
hgvsc: ENST00000394410.2:c.-48-21480G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000421224
ensembl transcript: ENST00000508267
gene symbol: PPP2R2B
hgvsc: ENST00000508267.1:c.10+157106G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000431320
ensembl transcript: ENST00000508545
gene symbol: PPP2R2B
hgvsc: ENST00000508545.2:c.-48-21480G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 224
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4987
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 277
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 31139
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22732
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4972
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.573e0

FS
type: SiteQuality
SIO_000300: 2.263e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.613e0

MQ
type: SiteQuality
SIO_000300: 5.699e1

DP
type: SiteQuality
SIO_000300: 1.511065e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.663e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000433890
ensembl transcript: ENST00000528601
gene symbol: PPP2R2B
hgvsc: ENST00000528601.1:c.-7G>A
variant of: http://identifiers.org/hgnc/9305

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000156475
ensembl protein: ENSP00000434497
ensembl transcript: ENST00000532154
gene symbol: PPP2R2B
hgvsc: ENST00000532154.1:c.-7G>A
variant of: http://identifiers.org/hgnc/9305

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30607
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4990
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 736
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22685
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.806e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: -4.384e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

QD
type: SiteQuality
SIO_000300: 8.92e0